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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs67798004

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:183152111-183152155 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(CA)13 / del(CA)12 / del(CA)11

del(CA)13 / del(CA)12 / del(CA)11 / del(CA)10 / del(CA)9 / del(CA)8 / del(CA)7 / del(CA)6 / del(CA)5 / del(CA)4 / del(CA)3 / delCACA / delCA / dupCA / dupCACA / dup(CA)3 / dup(CA)4 / dup(CA)5 / dup(CA)6 / dup(CA)7 / dup(CA)8 / dup(CA)9 / dup(CA)10

Variation Type
Indel Insertion and Deletion
Frequency
del(CA)10=0.2081 (802/3854, ALSPAC)
del(CA)13=0.000 (0/526, ALFA)
del(CA)12=0.000 (0/526, ALFA) (+ 22 more)
del(CA)11=0.000 (0/526, ALFA)
del(CA)10=0.000 (0/526, ALFA)
del(CA)9=0.000 (0/526, ALFA)
del(CA)8=0.000 (0/526, ALFA)
del(CA)7=0.000 (0/526, ALFA)
del(CA)6=0.000 (0/526, ALFA)
del(CA)5=0.000 (0/526, ALFA)
del(CA)4=0.000 (0/526, ALFA)
del(CA)3=0.000 (0/526, ALFA)
delCACA=0.000 (0/526, ALFA)
delCA=0.000 (0/526, ALFA)
dupCA=0.000 (0/526, ALFA)
dupCACA=0.000 (0/526, ALFA)
dup(CA)3=0.000 (0/526, ALFA)
dup(CA)4=0.000 (0/526, ALFA)
dup(CA)5=0.000 (0/526, ALFA)
dup(CA)6=0.000 (0/526, ALFA)
dup(CA)7=0.000 (0/526, ALFA)
dup(CA)8=0.000 (0/526, ALFA)
dup(CA)9=0.000 (0/526, ALFA)
dup(CA)10=0.000 (0/526, ALFA)
(AC)22A=0.00 (0/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NUP35 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 526 ACACACACACACACACACACACACACACACACACACACACACACA=1.000 ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000 1.0 0.0 0.0 N/A
European Sub 424 ACACACACACACACACACACACACACACACACACACACACACACA=1.000 ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000 1.0 0.0 0.0 N/A
African Sub 34 ACACACACACACACACACACACACACACACACACACACACACACA=1.00 ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 ACACACACACACACACACACACACACACACACACACACACACACA=0 ACACACACACACACACACA=0, ACACACACACACACACACACA=0, ACACACACACACACACACACACA=0, ACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0 0 0 0 N/A
African American Sub 34 ACACACACACACACACACACACACACACACACACACACACACACA=1.00 ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Asian Sub 2 ACACACACACACACACACACACACACACACACACACACACACACA=1.0 ACACACACACACACACACA=0.0, ACACACACACACACACACACA=0.0, ACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 ACACACACACACACACACACACACACACACACACACACACACACA=1.0 ACACACACACACACACACA=0.0, ACACACACACACACACACACA=0.0, ACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 ACACACACACACACACACACACACACACACACACACACACACACA=0 ACACACACACACACACACA=0, ACACACACACACACACACACA=0, ACACACACACACACACACACACA=0, ACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0 0 0 0 N/A
Latin American 1 Sub 16 ACACACACACACACACACACACACACACACACACACACACACACA=1.00 ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 30 ACACACACACACACACACACACACACACACACACACACACACACA=1.00 ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 ACACACACACACACACACACACACACACACACACACACACACACA=1.0 ACACACACACACACACACA=0.0, ACACACACACACACACACACA=0.0, ACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0 1.0 0.0 0.0 N/A
Other Sub 18 ACACACACACACACACACACACACACACACACACACACACACACA=1.00 ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A


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Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (AC)22A=0.7919 del(CA)10=0.2081
Allele Frequency Aggregator Total Global 526 (AC)22A=1.000 del(CA)13=0.000, del(CA)12=0.000, del(CA)11=0.000, del(CA)10=0.000, del(CA)9=0.000, del(CA)8=0.000, del(CA)7=0.000, del(CA)6=0.000, del(CA)5=0.000, del(CA)4=0.000, del(CA)3=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)3=0.000, dup(CA)4=0.000, dup(CA)5=0.000, dup(CA)6=0.000, dup(CA)7=0.000, dup(CA)8=0.000, dup(CA)9=0.000, dup(CA)10=0.000
Allele Frequency Aggregator European Sub 424 (AC)22A=1.000 del(CA)13=0.000, del(CA)12=0.000, del(CA)11=0.000, del(CA)10=0.000, del(CA)9=0.000, del(CA)8=0.000, del(CA)7=0.000, del(CA)6=0.000, del(CA)5=0.000, del(CA)4=0.000, del(CA)3=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)3=0.000, dup(CA)4=0.000, dup(CA)5=0.000, dup(CA)6=0.000, dup(CA)7=0.000, dup(CA)8=0.000, dup(CA)9=0.000, dup(CA)10=0.000
Allele Frequency Aggregator African Sub 34 (AC)22A=1.00 del(CA)13=0.00, del(CA)12=0.00, del(CA)11=0.00, del(CA)10=0.00, del(CA)9=0.00, del(CA)8=0.00, del(CA)7=0.00, del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00, dup(CA)8=0.00, dup(CA)9=0.00, dup(CA)10=0.00
Allele Frequency Aggregator Latin American 2 Sub 30 (AC)22A=1.00 del(CA)13=0.00, del(CA)12=0.00, del(CA)11=0.00, del(CA)10=0.00, del(CA)9=0.00, del(CA)8=0.00, del(CA)7=0.00, del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00, dup(CA)8=0.00, dup(CA)9=0.00, dup(CA)10=0.00
Allele Frequency Aggregator Other Sub 18 (AC)22A=1.00 del(CA)13=0.00, del(CA)12=0.00, del(CA)11=0.00, del(CA)10=0.00, del(CA)9=0.00, del(CA)8=0.00, del(CA)7=0.00, del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00, dup(CA)8=0.00, dup(CA)9=0.00, dup(CA)10=0.00
Allele Frequency Aggregator Latin American 1 Sub 16 (AC)22A=1.00 del(CA)13=0.00, del(CA)12=0.00, del(CA)11=0.00, del(CA)10=0.00, del(CA)9=0.00, del(CA)8=0.00, del(CA)7=0.00, del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00, dup(CA)8=0.00, dup(CA)9=0.00, dup(CA)10=0.00
Allele Frequency Aggregator South Asian Sub 2 (AC)22A=1.0 del(CA)13=0.0, del(CA)12=0.0, del(CA)11=0.0, del(CA)10=0.0, del(CA)9=0.0, del(CA)8=0.0, del(CA)7=0.0, del(CA)6=0.0, del(CA)5=0.0, del(CA)4=0.0, del(CA)3=0.0, delCACA=0.0, delCA=0.0, dupCA=0.0, dupCACA=0.0, dup(CA)3=0.0, dup(CA)4=0.0, dup(CA)5=0.0, dup(CA)6=0.0, dup(CA)7=0.0, dup(CA)8=0.0, dup(CA)9=0.0, dup(CA)10=0.0
Allele Frequency Aggregator Asian Sub 2 (AC)22A=1.0 del(CA)13=0.0, del(CA)12=0.0, del(CA)11=0.0, del(CA)10=0.0, del(CA)9=0.0, del(CA)8=0.0, del(CA)7=0.0, del(CA)6=0.0, del(CA)5=0.0, del(CA)4=0.0, del(CA)3=0.0, delCACA=0.0, delCA=0.0, dupCA=0.0, dupCACA=0.0, dup(CA)3=0.0, dup(CA)4=0.0, dup(CA)5=0.0, dup(CA)6=0.0, dup(CA)7=0.0, dup(CA)8=0.0, dup(CA)9=0.0, dup(CA)10=0.0
The Danish reference pan genome Danish Study-wide 40 (AC)22A=0.00 del(CA)9=1.00
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Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[9]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[10]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[11]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[12]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[13]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[14]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[15]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[16]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[17]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[18]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[19]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[20]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[21]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[23]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[24]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[25]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[26]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[27]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[28]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[29]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[30]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[31]
GRCh38.p14 chr 2 NC_000002.12:g.183152112CA[32]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[9]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[10]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[11]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[12]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[13]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[14]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[15]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[16]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[17]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[18]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[19]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[20]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[21]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[23]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[24]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[25]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[26]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[27]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[28]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[29]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[30]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[31]
GRCh37.p13 chr 2 NC_000002.11:g.184016840CA[32]
Gene: NUP35, nucleoporin 35 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NUP35 transcript variant 3 NM_001287584.2:c.488+462A…

NM_001287584.2:c.488+462AC[9]

N/A Intron Variant
NUP35 transcript variant 4 NM_001287585.2:c.185+462A…

NM_001287585.2:c.185+462AC[9]

N/A Intron Variant
NUP35 transcript variant 1 NM_138285.5:c.539+462AC[9] N/A Intron Variant
NUP35 transcript variant 2 NR_109856.2:n. N/A Intron Variant
NUP35 transcript variant X2 XM_006712254.4:c.488+462A…

XM_006712254.4:c.488+462AC[9]

N/A Intron Variant
NUP35 transcript variant X5 XM_011510576.4:c.488+462A…

XM_011510576.4:c.488+462AC[9]

N/A Intron Variant
NUP35 transcript variant X3 XM_011510577.3:c.488+462A…

XM_011510577.3:c.488+462AC[9]

N/A Intron Variant
NUP35 transcript variant X1 XM_017003308.1:c.548+462A…

XM_017003308.1:c.548+462AC[9]

N/A Intron Variant
NUP35 transcript variant X4 XM_047443270.1:c.488+462A…

XM_047443270.1:c.488+462AC[9]

N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (AC)22A= del(CA)13 del(CA)12 del(CA)11 del(CA)10 del(CA)9 del(CA)8 del(CA)7 del(CA)6 del(CA)5 del(CA)4 del(CA)3 delCACA delCA dupCA dupCACA dup(CA)3 dup(CA)4 dup(CA)5 dup(CA)6 dup(CA)7 dup(CA)8 dup(CA)9 dup(CA)10
GRCh38.p14 chr 2 NC_000002.12:g.183152111_183152155= NC_000002.12:g.183152112CA[9] NC_000002.12:g.183152112CA[10] NC_000002.12:g.183152112CA[11] NC_000002.12:g.183152112CA[12] NC_000002.12:g.183152112CA[13] NC_000002.12:g.183152112CA[14] NC_000002.12:g.183152112CA[15] NC_000002.12:g.183152112CA[16] NC_000002.12:g.183152112CA[17] NC_000002.12:g.183152112CA[18] NC_000002.12:g.183152112CA[19] NC_000002.12:g.183152112CA[20] NC_000002.12:g.183152112CA[21] NC_000002.12:g.183152112CA[23] NC_000002.12:g.183152112CA[24] NC_000002.12:g.183152112CA[25] NC_000002.12:g.183152112CA[26] NC_000002.12:g.183152112CA[27] NC_000002.12:g.183152112CA[28] NC_000002.12:g.183152112CA[29] NC_000002.12:g.183152112CA[30] NC_000002.12:g.183152112CA[31] NC_000002.12:g.183152112CA[32]
GRCh37.p13 chr 2 NC_000002.11:g.184016839_184016883= NC_000002.11:g.184016840CA[9] NC_000002.11:g.184016840CA[10] NC_000002.11:g.184016840CA[11] NC_000002.11:g.184016840CA[12] NC_000002.11:g.184016840CA[13] NC_000002.11:g.184016840CA[14] NC_000002.11:g.184016840CA[15] NC_000002.11:g.184016840CA[16] NC_000002.11:g.184016840CA[17] NC_000002.11:g.184016840CA[18] NC_000002.11:g.184016840CA[19] NC_000002.11:g.184016840CA[20] NC_000002.11:g.184016840CA[21] NC_000002.11:g.184016840CA[23] NC_000002.11:g.184016840CA[24] NC_000002.11:g.184016840CA[25] NC_000002.11:g.184016840CA[26] NC_000002.11:g.184016840CA[27] NC_000002.11:g.184016840CA[28] NC_000002.11:g.184016840CA[29] NC_000002.11:g.184016840CA[30] NC_000002.11:g.184016840CA[31] NC_000002.11:g.184016840CA[32]
NUP35 transcript variant 3 NM_001287584.2:c.488+462= NM_001287584.2:c.488+462AC[9] NM_001287584.2:c.488+462AC[10] NM_001287584.2:c.488+462AC[11] NM_001287584.2:c.488+462AC[12] NM_001287584.2:c.488+462AC[13] NM_001287584.2:c.488+462AC[14] NM_001287584.2:c.488+462AC[15] NM_001287584.2:c.488+462AC[16] NM_001287584.2:c.488+462AC[17] NM_001287584.2:c.488+462AC[18] NM_001287584.2:c.488+462AC[19] NM_001287584.2:c.488+462AC[20] NM_001287584.2:c.488+462AC[21] NM_001287584.2:c.488+462AC[23] NM_001287584.2:c.488+462AC[24] NM_001287584.2:c.488+462AC[25] NM_001287584.2:c.488+462AC[26] NM_001287584.2:c.488+462AC[27] NM_001287584.2:c.488+462AC[28] NM_001287584.2:c.488+462AC[29] NM_001287584.2:c.488+462AC[30] NM_001287584.2:c.488+462AC[31] NM_001287584.2:c.488+462AC[32]
NUP35 transcript variant 4 NM_001287585.2:c.185+462= NM_001287585.2:c.185+462AC[9] NM_001287585.2:c.185+462AC[10] NM_001287585.2:c.185+462AC[11] NM_001287585.2:c.185+462AC[12] NM_001287585.2:c.185+462AC[13] NM_001287585.2:c.185+462AC[14] NM_001287585.2:c.185+462AC[15] NM_001287585.2:c.185+462AC[16] NM_001287585.2:c.185+462AC[17] NM_001287585.2:c.185+462AC[18] NM_001287585.2:c.185+462AC[19] NM_001287585.2:c.185+462AC[20] NM_001287585.2:c.185+462AC[21] NM_001287585.2:c.185+462AC[23] NM_001287585.2:c.185+462AC[24] NM_001287585.2:c.185+462AC[25] NM_001287585.2:c.185+462AC[26] NM_001287585.2:c.185+462AC[27] NM_001287585.2:c.185+462AC[28] NM_001287585.2:c.185+462AC[29] NM_001287585.2:c.185+462AC[30] NM_001287585.2:c.185+462AC[31] NM_001287585.2:c.185+462AC[32]
NUP35 transcript NM_138285.3:c.539+462= NM_138285.3:c.539+462AC[9] NM_138285.3:c.539+462AC[10] NM_138285.3:c.539+462AC[11] NM_138285.3:c.539+462AC[12] NM_138285.3:c.539+462AC[13] NM_138285.3:c.539+462AC[14] NM_138285.3:c.539+462AC[15] NM_138285.3:c.539+462AC[16] NM_138285.3:c.539+462AC[17] NM_138285.3:c.539+462AC[18] NM_138285.3:c.539+462AC[19] NM_138285.3:c.539+462AC[20] NM_138285.3:c.539+462AC[21] NM_138285.3:c.539+462AC[23] NM_138285.3:c.539+462AC[24] NM_138285.3:c.539+462AC[25] NM_138285.3:c.539+462AC[26] NM_138285.3:c.539+462AC[27] NM_138285.3:c.539+462AC[28] NM_138285.3:c.539+462AC[29] NM_138285.3:c.539+462AC[30] NM_138285.3:c.539+462AC[31] NM_138285.3:c.539+462AC[32]
NUP35 transcript variant 1 NM_138285.5:c.539+462= NM_138285.5:c.539+462AC[9] NM_138285.5:c.539+462AC[10] NM_138285.5:c.539+462AC[11] NM_138285.5:c.539+462AC[12] NM_138285.5:c.539+462AC[13] NM_138285.5:c.539+462AC[14] NM_138285.5:c.539+462AC[15] NM_138285.5:c.539+462AC[16] NM_138285.5:c.539+462AC[17] NM_138285.5:c.539+462AC[18] NM_138285.5:c.539+462AC[19] NM_138285.5:c.539+462AC[20] NM_138285.5:c.539+462AC[21] NM_138285.5:c.539+462AC[23] NM_138285.5:c.539+462AC[24] NM_138285.5:c.539+462AC[25] NM_138285.5:c.539+462AC[26] NM_138285.5:c.539+462AC[27] NM_138285.5:c.539+462AC[28] NM_138285.5:c.539+462AC[29] NM_138285.5:c.539+462AC[30] NM_138285.5:c.539+462AC[31] NM_138285.5:c.539+462AC[32]
NUP35 transcript variant X1 XM_005246284.1:c.548+462= XM_005246284.1:c.548+462AC[9] XM_005246284.1:c.548+462AC[10] XM_005246284.1:c.548+462AC[11] XM_005246284.1:c.548+462AC[12] XM_005246284.1:c.548+462AC[13] XM_005246284.1:c.548+462AC[14] XM_005246284.1:c.548+462AC[15] XM_005246284.1:c.548+462AC[16] XM_005246284.1:c.548+462AC[17] XM_005246284.1:c.548+462AC[18] XM_005246284.1:c.548+462AC[19] XM_005246284.1:c.548+462AC[20] XM_005246284.1:c.548+462AC[21] XM_005246284.1:c.548+462AC[23] XM_005246284.1:c.548+462AC[24] XM_005246284.1:c.548+462AC[25] XM_005246284.1:c.548+462AC[26] XM_005246284.1:c.548+462AC[27] XM_005246284.1:c.548+462AC[28] XM_005246284.1:c.548+462AC[29] XM_005246284.1:c.548+462AC[30] XM_005246284.1:c.548+462AC[31] XM_005246284.1:c.548+462AC[32]
NUP35 transcript variant X2 XM_005246285.1:c.488+462= XM_005246285.1:c.488+462AC[9] XM_005246285.1:c.488+462AC[10] XM_005246285.1:c.488+462AC[11] XM_005246285.1:c.488+462AC[12] XM_005246285.1:c.488+462AC[13] XM_005246285.1:c.488+462AC[14] XM_005246285.1:c.488+462AC[15] XM_005246285.1:c.488+462AC[16] XM_005246285.1:c.488+462AC[17] XM_005246285.1:c.488+462AC[18] XM_005246285.1:c.488+462AC[19] XM_005246285.1:c.488+462AC[20] XM_005246285.1:c.488+462AC[21] XM_005246285.1:c.488+462AC[23] XM_005246285.1:c.488+462AC[24] XM_005246285.1:c.488+462AC[25] XM_005246285.1:c.488+462AC[26] XM_005246285.1:c.488+462AC[27] XM_005246285.1:c.488+462AC[28] XM_005246285.1:c.488+462AC[29] XM_005246285.1:c.488+462AC[30] XM_005246285.1:c.488+462AC[31] XM_005246285.1:c.488+462AC[32]
NUP35 transcript variant X3 XM_005246286.1:c.185+462= XM_005246286.1:c.185+462AC[9] XM_005246286.1:c.185+462AC[10] XM_005246286.1:c.185+462AC[11] XM_005246286.1:c.185+462AC[12] XM_005246286.1:c.185+462AC[13] XM_005246286.1:c.185+462AC[14] XM_005246286.1:c.185+462AC[15] XM_005246286.1:c.185+462AC[16] XM_005246286.1:c.185+462AC[17] XM_005246286.1:c.185+462AC[18] XM_005246286.1:c.185+462AC[19] XM_005246286.1:c.185+462AC[20] XM_005246286.1:c.185+462AC[21] XM_005246286.1:c.185+462AC[23] XM_005246286.1:c.185+462AC[24] XM_005246286.1:c.185+462AC[25] XM_005246286.1:c.185+462AC[26] XM_005246286.1:c.185+462AC[27] XM_005246286.1:c.185+462AC[28] XM_005246286.1:c.185+462AC[29] XM_005246286.1:c.185+462AC[30] XM_005246286.1:c.185+462AC[31] XM_005246286.1:c.185+462AC[32]
NUP35 transcript variant X2 XM_006712254.4:c.488+462= XM_006712254.4:c.488+462AC[9] XM_006712254.4:c.488+462AC[10] XM_006712254.4:c.488+462AC[11] XM_006712254.4:c.488+462AC[12] XM_006712254.4:c.488+462AC[13] XM_006712254.4:c.488+462AC[14] XM_006712254.4:c.488+462AC[15] XM_006712254.4:c.488+462AC[16] XM_006712254.4:c.488+462AC[17] XM_006712254.4:c.488+462AC[18] XM_006712254.4:c.488+462AC[19] XM_006712254.4:c.488+462AC[20] XM_006712254.4:c.488+462AC[21] XM_006712254.4:c.488+462AC[23] XM_006712254.4:c.488+462AC[24] XM_006712254.4:c.488+462AC[25] XM_006712254.4:c.488+462AC[26] XM_006712254.4:c.488+462AC[27] XM_006712254.4:c.488+462AC[28] XM_006712254.4:c.488+462AC[29] XM_006712254.4:c.488+462AC[30] XM_006712254.4:c.488+462AC[31] XM_006712254.4:c.488+462AC[32]
NUP35 transcript variant X5 XM_011510576.4:c.488+462= XM_011510576.4:c.488+462AC[9] XM_011510576.4:c.488+462AC[10] XM_011510576.4:c.488+462AC[11] XM_011510576.4:c.488+462AC[12] XM_011510576.4:c.488+462AC[13] XM_011510576.4:c.488+462AC[14] XM_011510576.4:c.488+462AC[15] XM_011510576.4:c.488+462AC[16] XM_011510576.4:c.488+462AC[17] XM_011510576.4:c.488+462AC[18] XM_011510576.4:c.488+462AC[19] XM_011510576.4:c.488+462AC[20] XM_011510576.4:c.488+462AC[21] XM_011510576.4:c.488+462AC[23] XM_011510576.4:c.488+462AC[24] XM_011510576.4:c.488+462AC[25] XM_011510576.4:c.488+462AC[26] XM_011510576.4:c.488+462AC[27] XM_011510576.4:c.488+462AC[28] XM_011510576.4:c.488+462AC[29] XM_011510576.4:c.488+462AC[30] XM_011510576.4:c.488+462AC[31] XM_011510576.4:c.488+462AC[32]
NUP35 transcript variant X3 XM_011510577.3:c.488+462= XM_011510577.3:c.488+462AC[9] XM_011510577.3:c.488+462AC[10] XM_011510577.3:c.488+462AC[11] XM_011510577.3:c.488+462AC[12] XM_011510577.3:c.488+462AC[13] XM_011510577.3:c.488+462AC[14] XM_011510577.3:c.488+462AC[15] XM_011510577.3:c.488+462AC[16] XM_011510577.3:c.488+462AC[17] XM_011510577.3:c.488+462AC[18] XM_011510577.3:c.488+462AC[19] XM_011510577.3:c.488+462AC[20] XM_011510577.3:c.488+462AC[21] XM_011510577.3:c.488+462AC[23] XM_011510577.3:c.488+462AC[24] XM_011510577.3:c.488+462AC[25] XM_011510577.3:c.488+462AC[26] XM_011510577.3:c.488+462AC[27] XM_011510577.3:c.488+462AC[28] XM_011510577.3:c.488+462AC[29] XM_011510577.3:c.488+462AC[30] XM_011510577.3:c.488+462AC[31] XM_011510577.3:c.488+462AC[32]
NUP35 transcript variant X1 XM_017003308.1:c.548+462= XM_017003308.1:c.548+462AC[9] XM_017003308.1:c.548+462AC[10] XM_017003308.1:c.548+462AC[11] XM_017003308.1:c.548+462AC[12] XM_017003308.1:c.548+462AC[13] XM_017003308.1:c.548+462AC[14] XM_017003308.1:c.548+462AC[15] XM_017003308.1:c.548+462AC[16] XM_017003308.1:c.548+462AC[17] XM_017003308.1:c.548+462AC[18] XM_017003308.1:c.548+462AC[19] XM_017003308.1:c.548+462AC[20] XM_017003308.1:c.548+462AC[21] XM_017003308.1:c.548+462AC[23] XM_017003308.1:c.548+462AC[24] XM_017003308.1:c.548+462AC[25] XM_017003308.1:c.548+462AC[26] XM_017003308.1:c.548+462AC[27] XM_017003308.1:c.548+462AC[28] XM_017003308.1:c.548+462AC[29] XM_017003308.1:c.548+462AC[30] XM_017003308.1:c.548+462AC[31] XM_017003308.1:c.548+462AC[32]
NUP35 transcript variant X4 XM_047443270.1:c.488+462= XM_047443270.1:c.488+462AC[9] XM_047443270.1:c.488+462AC[10] XM_047443270.1:c.488+462AC[11] XM_047443270.1:c.488+462AC[12] XM_047443270.1:c.488+462AC[13] XM_047443270.1:c.488+462AC[14] XM_047443270.1:c.488+462AC[15] XM_047443270.1:c.488+462AC[16] XM_047443270.1:c.488+462AC[17] XM_047443270.1:c.488+462AC[18] XM_047443270.1:c.488+462AC[19] XM_047443270.1:c.488+462AC[20] XM_047443270.1:c.488+462AC[21] XM_047443270.1:c.488+462AC[23] XM_047443270.1:c.488+462AC[24] XM_047443270.1:c.488+462AC[25] XM_047443270.1:c.488+462AC[26] XM_047443270.1:c.488+462AC[27] XM_047443270.1:c.488+462AC[28] XM_047443270.1:c.488+462AC[29] XM_047443270.1:c.488+462AC[30] XM_047443270.1:c.488+462AC[31] XM_047443270.1:c.488+462AC[32]
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

78 SubSNP, 45 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80233294 Oct 11, 2018 (152)
2 HUMANGENOME_JCVI ss95295462 Feb 13, 2009 (130)
3 HUMANGENOME_JCVI ss96733910 Mar 15, 2016 (147)
4 GMI ss287711755 May 09, 2011 (134)
5 GMI ss288263605 May 04, 2012 (138)
6 1000GENOMES ss326286235 May 09, 2011 (138)
7 1000GENOMES ss326303264 May 09, 2011 (138)
8 1000GENOMES ss326391056 May 09, 2011 (138)
9 LUNTER ss551156401 Apr 25, 2013 (138)
10 LUNTER ss551222245 Apr 25, 2013 (138)
11 LUNTER ss552960183 Apr 25, 2013 (138)
12 BILGI_BIOE ss666178765 Apr 25, 2013 (138)
13 EVA_GENOME_DK ss1583570706 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1703314764 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1703314781 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1710042223 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1710042248 Apr 01, 2015 (144)
18 HAMMER_LAB ss1798036189 Sep 08, 2015 (146)
19 SWEGEN ss2990997256 Nov 08, 2017 (151)
20 MCHAISSO ss3065782650 Nov 08, 2017 (151)
21 URBANLAB ss3647225190 Oct 11, 2018 (152)
22 EVA_DECODE ss3705582459 Jul 13, 2019 (153)
23 EVA_DECODE ss3705582460 Jul 13, 2019 (153)
24 EVA_DECODE ss3705582461 Jul 13, 2019 (153)
25 EVA_DECODE ss3705582462 Jul 13, 2019 (153)
26 EVA_DECODE ss3705582463 Jul 13, 2019 (153)
27 EVA_DECODE ss3705582464 Jul 13, 2019 (153)
28 PACBIO ss3784089232 Jul 13, 2019 (153)
29 PACBIO ss3789637393 Jul 13, 2019 (153)
30 PACBIO ss3794510509 Jul 13, 2019 (153)
31 KHV_HUMAN_GENOMES ss3802175543 Jul 13, 2019 (153)
32 EVA ss3827394672 Apr 25, 2020 (154)
33 KOGIC ss3949653337 Apr 25, 2020 (154)
34 KOGIC ss3949653338 Apr 25, 2020 (154)
35 KOGIC ss3949653339 Apr 25, 2020 (154)
36 KOGIC ss3949653340 Apr 25, 2020 (154)
37 KOGIC ss3949653341 Apr 25, 2020 (154)
38 KOGIC ss3949653342 Apr 25, 2020 (154)
39 GNOMAD ss4057019663 Apr 26, 2021 (155)
40 GNOMAD ss4057019664 Apr 26, 2021 (155)
41 GNOMAD ss4057019665 Apr 26, 2021 (155)
42 GNOMAD ss4057019666 Apr 26, 2021 (155)
43 GNOMAD ss4057019667 Apr 26, 2021 (155)
44 GNOMAD ss4057019668 Apr 26, 2021 (155)
45 GNOMAD ss4057019669 Apr 26, 2021 (155)
46 GNOMAD ss4057019670 Apr 26, 2021 (155)
47 GNOMAD ss4057019671 Apr 26, 2021 (155)
48 GNOMAD ss4057019682 Apr 26, 2021 (155)
49 GNOMAD ss4057019683 Apr 26, 2021 (155)
50 GNOMAD ss4057019684 Apr 26, 2021 (155)
51 GNOMAD ss4057019685 Apr 26, 2021 (155)
52 GNOMAD ss4057019686 Apr 26, 2021 (155)
53 GNOMAD ss4057019687 Apr 26, 2021 (155)
54 GNOMAD ss4057019688 Apr 26, 2021 (155)
55 GNOMAD ss4057019689 Apr 26, 2021 (155)
56 GNOMAD ss4057019690 Apr 26, 2021 (155)
57 GNOMAD ss4057019691 Apr 26, 2021 (155)
58 GNOMAD ss4057019692 Apr 26, 2021 (155)
59 GNOMAD ss4057019693 Apr 26, 2021 (155)
60 GNOMAD ss4057019694 Apr 26, 2021 (155)
61 TOMMO_GENOMICS ss5155476342 Apr 26, 2021 (155)
62 TOMMO_GENOMICS ss5155476343 Apr 26, 2021 (155)
63 TOMMO_GENOMICS ss5155476344 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5155476345 Apr 26, 2021 (155)
65 TOMMO_GENOMICS ss5155476346 Apr 26, 2021 (155)
66 TOMMO_GENOMICS ss5155476347 Apr 26, 2021 (155)
67 HUGCELL_USP ss5450940814 Oct 12, 2022 (156)
68 HUGCELL_USP ss5450940815 Oct 12, 2022 (156)
69 HUGCELL_USP ss5450940816 Oct 12, 2022 (156)
70 HUGCELL_USP ss5450940817 Oct 12, 2022 (156)
71 HUGCELL_USP ss5450940818 Oct 12, 2022 (156)
72 HUGCELL_USP ss5450940819 Oct 12, 2022 (156)
73 TOMMO_GENOMICS ss5686063021 Oct 12, 2022 (156)
74 TOMMO_GENOMICS ss5686063022 Oct 12, 2022 (156)
75 TOMMO_GENOMICS ss5686063023 Oct 12, 2022 (156)
76 TOMMO_GENOMICS ss5686063024 Oct 12, 2022 (156)
77 TOMMO_GENOMICS ss5686063025 Oct 12, 2022 (156)
78 TOMMO_GENOMICS ss5686063026 Oct 12, 2022 (156)
79 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 184016839 Oct 11, 2018 (152)
80 The Danish reference pan genome NC_000002.11 - 184016841 Apr 25, 2020 (154)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 84194093 (NC_000002.12:183152110::AC 2738/105250)
Row 84194094 (NC_000002.12:183152110::ACAC 3482/105222)
Row 84194095 (NC_000002.12:183152110::ACACAC 1182/105320)...

- Apr 26, 2021 (155)
103 Korean Genome Project

Submission ignored due to conflicting rows:
Row 6031338 (NC_000002.12:183152112:ACACACACACACACACACAC: 272/1540)
Row 6031339 (NC_000002.12:183152130:AC: 285/1540)
Row 6031340 (NC_000002.12:183152114:ACACACACACACACACAC: 19/1540)...

- Apr 25, 2020 (154)
104 Korean Genome Project

Submission ignored due to conflicting rows:
Row 6031338 (NC_000002.12:183152112:ACACACACACACACACACAC: 272/1540)
Row 6031339 (NC_000002.12:183152130:AC: 285/1540)
Row 6031340 (NC_000002.12:183152114:ACACACACACACACACAC: 19/1540)...

- Apr 25, 2020 (154)
105 Korean Genome Project

Submission ignored due to conflicting rows:
Row 6031338 (NC_000002.12:183152112:ACACACACACACACACACAC: 272/1540)
Row 6031339 (NC_000002.12:183152130:AC: 285/1540)
Row 6031340 (NC_000002.12:183152114:ACACACACACACACACAC: 19/1540)...

- Apr 25, 2020 (154)
106 Korean Genome Project

Submission ignored due to conflicting rows:
Row 6031338 (NC_000002.12:183152112:ACACACACACACACACACAC: 272/1540)
Row 6031339 (NC_000002.12:183152130:AC: 285/1540)
Row 6031340 (NC_000002.12:183152114:ACACACACACACACACAC: 19/1540)...

- Apr 25, 2020 (154)
107 Korean Genome Project

Submission ignored due to conflicting rows:
Row 6031338 (NC_000002.12:183152112:ACACACACACACACACACAC: 272/1540)
Row 6031339 (NC_000002.12:183152130:AC: 285/1540)
Row 6031340 (NC_000002.12:183152114:ACACACACACACACACAC: 19/1540)...

- Apr 25, 2020 (154)
108 Korean Genome Project

Submission ignored due to conflicting rows:
Row 6031338 (NC_000002.12:183152112:ACACACACACACACACACAC: 272/1540)
Row 6031339 (NC_000002.12:183152130:AC: 285/1540)
Row 6031340 (NC_000002.12:183152114:ACACACACACACACACAC: 19/1540)...

- Apr 25, 2020 (154)
109 8.3KJPN

Submission ignored due to conflicting rows:
Row 13445649 (NC_000002.11:184016838:AC: 2258/13854)
Row 13445650 (NC_000002.11:184016838:ACACACACACACACACACAC: 2438/13854)
Row 13445651 (NC_000002.11:184016838::AC 326/13854)...

- Apr 26, 2021 (155)
110 8.3KJPN

Submission ignored due to conflicting rows:
Row 13445649 (NC_000002.11:184016838:AC: 2258/13854)
Row 13445650 (NC_000002.11:184016838:ACACACACACACACACACAC: 2438/13854)
Row 13445651 (NC_000002.11:184016838::AC 326/13854)...

- Apr 26, 2021 (155)
111 8.3KJPN

Submission ignored due to conflicting rows:
Row 13445649 (NC_000002.11:184016838:AC: 2258/13854)
Row 13445650 (NC_000002.11:184016838:ACACACACACACACACACAC: 2438/13854)
Row 13445651 (NC_000002.11:184016838::AC 326/13854)...

- Apr 26, 2021 (155)
112 8.3KJPN

Submission ignored due to conflicting rows:
Row 13445649 (NC_000002.11:184016838:AC: 2258/13854)
Row 13445650 (NC_000002.11:184016838:ACACACACACACACACACAC: 2438/13854)
Row 13445651 (NC_000002.11:184016838::AC 326/13854)...

- Apr 26, 2021 (155)
113 8.3KJPN

Submission ignored due to conflicting rows:
Row 13445649 (NC_000002.11:184016838:AC: 2258/13854)
Row 13445650 (NC_000002.11:184016838:ACACACACACACACACACAC: 2438/13854)
Row 13445651 (NC_000002.11:184016838::AC 326/13854)...

- Apr 26, 2021 (155)
114 8.3KJPN

Submission ignored due to conflicting rows:
Row 13445649 (NC_000002.11:184016838:AC: 2258/13854)
Row 13445650 (NC_000002.11:184016838:ACACACACACACACACACAC: 2438/13854)
Row 13445651 (NC_000002.11:184016838::AC 326/13854)...

- Apr 26, 2021 (155)
115 14KJPN

Submission ignored due to conflicting rows:
Row 19900125 (NC_000002.12:183152110:ACACACACACACACACACAC: 4150/28220)
Row 19900126 (NC_000002.12:183152110:AC: 3875/28220)
Row 19900127 (NC_000002.12:183152110:ACACACACACACACACAC: 231/28220)...

- Oct 12, 2022 (156)
116 14KJPN

Submission ignored due to conflicting rows:
Row 19900125 (NC_000002.12:183152110:ACACACACACACACACACAC: 4150/28220)
Row 19900126 (NC_000002.12:183152110:AC: 3875/28220)
Row 19900127 (NC_000002.12:183152110:ACACACACACACACACAC: 231/28220)...

- Oct 12, 2022 (156)
117 14KJPN

Submission ignored due to conflicting rows:
Row 19900125 (NC_000002.12:183152110:ACACACACACACACACACAC: 4150/28220)
Row 19900126 (NC_000002.12:183152110:AC: 3875/28220)
Row 19900127 (NC_000002.12:183152110:ACACACACACACACACAC: 231/28220)...

- Oct 12, 2022 (156)
118 14KJPN

Submission ignored due to conflicting rows:
Row 19900125 (NC_000002.12:183152110:ACACACACACACACACACAC: 4150/28220)
Row 19900126 (NC_000002.12:183152110:AC: 3875/28220)
Row 19900127 (NC_000002.12:183152110:ACACACACACACACACAC: 231/28220)...

- Oct 12, 2022 (156)
119 14KJPN

Submission ignored due to conflicting rows:
Row 19900125 (NC_000002.12:183152110:ACACACACACACACACACAC: 4150/28220)
Row 19900126 (NC_000002.12:183152110:AC: 3875/28220)
Row 19900127 (NC_000002.12:183152110:ACACACACACACACACAC: 231/28220)...

- Oct 12, 2022 (156)
120 14KJPN

Submission ignored due to conflicting rows:
Row 19900125 (NC_000002.12:183152110:ACACACACACACACACACAC: 4150/28220)
Row 19900126 (NC_000002.12:183152110:AC: 3875/28220)
Row 19900127 (NC_000002.12:183152110:ACACACACACACACACAC: 231/28220)...

- Oct 12, 2022 (156)
121 UK 10K study - Twins - Oct 11, 2018 (152)
122 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 6528513 (NC_000002.11:184016838:ACACACACACACACACACAC: 826/3708)
Row 6528514 (NC_000002.11:184016854:ACAC: 1227/3708)

- Apr 25, 2020 (154)
123 ALFA NC_000002.12 - 183152111 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs67798005 Feb 27, 2009 (130)
rs144906017 Apr 25, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4057019694 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA

(self)
ss4057019693 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA

(self)
ss3949653341, ss4057019692 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss288263605, ss326286235, ss326303264, ss326391056, ss551156401, ss551222245, ss552960183 NC_000002.10:183725083:ACACACACACA…

NC_000002.10:183725083:ACACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
6528513, ss1703314764, ss1703314781, ss1798036189, ss2990997256, ss5155476343 NC_000002.11:184016838:ACACACACACA…

NC_000002.11:184016838:ACACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss1583570706 NC_000002.11:184016840:ACACACACACA…

NC_000002.11:184016840:ACACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss3705582464, ss3802175543, ss4057019691, ss5450940818, ss5686063021 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss3949653337 NC_000002.12:183152112:ACACACACACA…

NC_000002.12:183152112:ACACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss3647225190 NC_000002.12:183152129:CACACACACAC…

NC_000002.12:183152129:CACACACACACACACACACA:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss96733910 NT_005403.17:34226256:ACACACACACAC…

NT_005403.17:34226256:ACACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss95295462 NT_005403.17:34226281:CACACACACACA…

NT_005403.17:34226281:CACACACACACACACACACA:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss5155476347 NC_000002.11:184016838:ACACACACACA…

NC_000002.11:184016838:ACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
59820 NC_000002.11:184016840:ACACACACACA…

NC_000002.11:184016840:ACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
ss4057019690, ss5686063023 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
ss3949653339 NC_000002.12:183152114:ACACACACACA…

NC_000002.12:183152114:ACACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
ss666178765, ss3784089232, ss3789637393, ss3794510509 NC_000002.11:184016838:ACACACACACA…

NC_000002.11:184016838:ACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
ss4057019689, ss5450940815 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
ss3705582463 NC_000002.12:183152114:ACACACACACA…

NC_000002.12:183152114:ACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
ss287711755 NT_005403.17:34226256:ACACACACACAC…

NT_005403.17:34226256:ACACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
ss4057019688 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA

(self)
ss4057019687 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACAC:

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA

(self)
ss4057019686 NC_000002.12:183152110:ACACACACAC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA

(self)
ss4057019685 NC_000002.12:183152110:ACACACAC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA

(self)
ss4057019684, ss5450940817 NC_000002.12:183152110:ACACAC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA

(self)
ss5155476345 NC_000002.11:184016838:ACAC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA

(self)
ss1710042223, ss1710042248 NC_000002.11:184016854:ACAC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019683, ss5450940816, ss5686063025 NC_000002.12:183152110:ACAC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA

(self)
ss3705582462 NC_000002.12:183152126:ACAC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA

(self)
ss3949653340 NC_000002.12:183152128:ACAC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA

(self)
ss5155476342 NC_000002.11:184016838:AC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019682, ss5450940814, ss5686063022 NC_000002.12:183152110:AC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3705582461 NC_000002.12:183152128:AC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3949653338 NC_000002.12:183152130:AC: NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA

(self)
ss96733910 NT_005403.17:34226256:ACACACACACAC…

NT_005403.17:34226256:ACACACACACACACACACAC:ACACACACACACACACAC

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA

(self)
ss5155476344 NC_000002.11:184016838::AC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019663, ss5686063024 NC_000002.12:183152110::AC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3949653342 NC_000002.12:183152132::AC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss5155476346 NC_000002.11:184016838::ACAC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3065782650, ss4057019664, ss5450940819, ss5686063026 NC_000002.12:183152110::ACAC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss80233294 NT_005403.17:34226301::CACA NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3827394672 NC_000002.11:184016838::ACACAC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019665 NC_000002.12:183152110::ACACAC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3705582460 NC_000002.12:183152130::ACACAC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019666 NC_000002.12:183152110::ACACACAC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3705582459 NC_000002.12:183152130::ACACACAC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019667 NC_000002.12:183152110::ACACACACAC NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019668 NC_000002.12:183152110::ACACACACAC…

NC_000002.12:183152110::ACACACACACAC

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019669 NC_000002.12:183152110::ACACACACAC…

NC_000002.12:183152110::ACACACACACACAC

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019670 NC_000002.12:183152110::ACACACACAC…

NC_000002.12:183152110::ACACACACACACACAC

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4057019671 NC_000002.12:183152110::ACACACACAC…

NC_000002.12:183152110::ACACACACACACACACAC

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
10954151489 NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:183152110:ACACACACACA…

NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs67798004

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d