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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.

rs11477198

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:18557746-18557761 (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(T)9 / del(T)5 / delTTT / delTT…

del(T)9 / del(T)5 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)6 / dup(T)7 / ins(T)7GAGA(T)6AGCCA(T)22C(T)17 / dup(T)8 / dup(T)9 / dup(T)10 / dup(T)11 / dup(T)12 / dup(T)13 / dup(T)14 / dup(T)15 / ins(TTTTTTTTTTTTTTTCTTT)2TTTTTTTTTTTTTTTTT / dup(T)16 / ins(T)17 / ins(T)18 / ins(T)19 / ins(T)20 / ins(T)21 / ins(T)21C(T)19 / ins(T)22 / ins(T)23 / ins(T)24 / ins(T)25 / ins(T)26 / ins(T)27 / ins(T)31 / ins(T)50

Variation Type
Indel Insertion and Deletion
Frequency
(T)16=0.4711 (2431/5160, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SEC23B : 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 5160 TTTTTTTTTTTTTTTT=0.4711 TTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.4903, TTTTTTTTTTTTTTTTTTTT=0.0141, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0058, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0064, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0078, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0045, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000 0.275876 0.268781 0.455342 11
European Sub 4592 TTTTTTTTTTTTTTTT=0.4068 TTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.5499, TTTTTTTTTTTTTTTTTTTT=0.0159, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0065, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0072, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0087, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0050, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000 0.180398 0.304451 0.515152 3
African Sub 440 TTTTTTTTTTTTTTTT=1.000 TTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 16 TTTTTTTTTTTTTTTT=1.00 TTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 424 TTTTTTTTTTTTTTTT=1.000 TTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 2 TTTTTTTTTTTTTTTT=1.0 TTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 0 TTTTTTTTTTTTTTTT=0 TTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Asian Sub 2 TTTTTTTTTTTTTTTT=1.0 TTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 18 TTTTTTTTTTTTTTTT=1.00 TTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 68 TTTTTTTTTTTTTTTT=1.00 TTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 TTTTTTTTTTTTTTTT=1.0 TTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Sub 38 TTTTTTTTTTTTTTTT=0.87 TTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.13, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00 0.789474 0.052632 0.157895 1


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 5160 (T)16=0.4711 del(T)9=0.0000, del(T)5=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.4903, dupT=0.0000, dupTT=0.0000, dup(T)4=0.0141, dup(T)11=0.0078, dup(T)12=0.0058, dup(T)13=0.0064, ins(T)22=0.0045
Allele Frequency Aggregator European Sub 4592 (T)16=0.4068 del(T)9=0.0000, del(T)5=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.5499, dupT=0.0000, dupTT=0.0000, dup(T)4=0.0159, dup(T)11=0.0087, dup(T)12=0.0065, dup(T)13=0.0072, ins(T)22=0.0050
Allele Frequency Aggregator African Sub 440 (T)16=1.000 del(T)9=0.000, del(T)5=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)4=0.000, dup(T)11=0.000, dup(T)12=0.000, dup(T)13=0.000, ins(T)22=0.000
Allele Frequency Aggregator Latin American 2 Sub 68 (T)16=1.00 del(T)9=0.00, del(T)5=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)4=0.00, dup(T)11=0.00, dup(T)12=0.00, dup(T)13=0.00, ins(T)22=0.00
Allele Frequency Aggregator Other Sub 38 (T)16=0.87 del(T)9=0.00, del(T)5=0.00, delTTT=0.00, delTT=0.00, delT=0.13, dupT=0.00, dupTT=0.00, dup(T)4=0.00, dup(T)11=0.00, dup(T)12=0.00, dup(T)13=0.00, ins(T)22=0.00
Allele Frequency Aggregator Latin American 1 Sub 18 (T)16=1.00 del(T)9=0.00, del(T)5=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)4=0.00, dup(T)11=0.00, dup(T)12=0.00, dup(T)13=0.00, ins(T)22=0.00
Allele Frequency Aggregator South Asian Sub 2 (T)16=1.0 del(T)9=0.0, del(T)5=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dup(T)4=0.0, dup(T)11=0.0, dup(T)12=0.0, dup(T)13=0.0, ins(T)22=0.0
Allele Frequency Aggregator Asian Sub 2 (T)16=1.0 del(T)9=0.0, del(T)5=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dup(T)4=0.0, dup(T)11=0.0, dup(T)12=0.0, dup(T)13=0.0, ins(T)22=0.0
Help

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 20 NC_000020.11:g.18557753_18557761del
GRCh38.p14 chr 20 NC_000020.11:g.18557757_18557761del
GRCh38.p14 chr 20 NC_000020.11:g.18557759_18557761del
GRCh38.p14 chr 20 NC_000020.11:g.18557760_18557761del
GRCh38.p14 chr 20 NC_000020.11:g.18557761del
GRCh38.p14 chr 20 NC_000020.11:g.18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557760_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557759_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557758_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557757_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557756_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557755_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557746_18557761T[23]GA[2]T[6]AGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 20 NC_000020.11:g.18557754_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557753_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557752_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557751_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557750_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557749_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557748_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557747_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557746_18557761T[31]CTTTTTTTTTTTTTTTTTT[2]TT[1]
GRCh38.p14 chr 20 NC_000020.11:g.18557746_18557761dup
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557746_18557761T[37]CTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538397_18538405del
GRCh37.p13 chr 20 NC_000020.10:g.18538401_18538405del
GRCh37.p13 chr 20 NC_000020.10:g.18538403_18538405del
GRCh37.p13 chr 20 NC_000020.10:g.18538404_18538405del
GRCh37.p13 chr 20 NC_000020.10:g.18538405del
GRCh37.p13 chr 20 NC_000020.10:g.18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538404_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538403_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538402_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538401_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538400_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538399_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538390_18538405T[23]GA[2]T[6]AGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 20 NC_000020.10:g.18538398_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538397_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538396_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538395_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538394_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538393_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538392_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538391_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538390_18538405T[31]CTTTTTTTTTTTTTTTTTT[2]TT[1]
GRCh37.p13 chr 20 NC_000020.10:g.18538390_18538405dup
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538390_18538405T[37]CTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55272_55280del
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55276_55280del
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55278_55280del
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55279_55280del
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280del
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55279_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55278_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55277_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55276_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55275_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55274_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55265_55280T[23]GA[2]T[6]AGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT[1]
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55273_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55272_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55271_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55270_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55269_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55268_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55267_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55266_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55265_55280T[31]CTTTTTTTTTTTTTTTTTT[2]TT[1]
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55265_55280dup
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55265_55280T[37]CTTTTTTTTTTTTTTTTTTT[1]
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene: SEC23B, SEC23 homolog B, COPII coat complex component (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SEC23B transcript variant 4 NM_001172745.3:c.2214+258…

NM_001172745.3:c.2214+2580_2214+2588del

N/A Intron Variant
SEC23B transcript variant 5 NM_001172746.3:c.2160+258…

NM_001172746.3:c.2160+2580_2160+2588del

N/A Intron Variant
SEC23B transcript variant 1 NM_006363.6:c.2214+2580_2…

NM_006363.6:c.2214+2580_2214+2588del

N/A Intron Variant
SEC23B transcript variant 2 NM_032985.6:c.2214+2580_2…

NM_032985.6:c.2214+2580_2214+2588del

N/A Intron Variant
SEC23B transcript variant 3 NM_032986.5:c.2214+2580_2…

NM_032986.5:c.2214+2580_2214+2588del

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 (T)16= del(T)9 del(T)5 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)6 dup(T)7 ins(T)7GAGA(T)6AGCCA(T)22C(T)17 dup(T)8 dup(T)9 dup(T)10 dup(T)11 dup(T)12 dup(T)13 dup(T)14 dup(T)15 ins(TTTTTTTTTTTTTTTCTTT)2TTTTTTTTTTTTTTTTT dup(T)16 ins(T)17 ins(T)18 ins(T)19 ins(T)20 ins(T)21 ins(T)21C(T)19 ins(T)22 ins(T)23 ins(T)24 ins(T)25 ins(T)26 ins(T)27 ins(T)31 ins(T)50
GRCh38.p14 chr 20 NC_000020.11:g.18557746_18557761= NC_000020.11:g.18557753_18557761del NC_000020.11:g.18557757_18557761del NC_000020.11:g.18557759_18557761del NC_000020.11:g.18557760_18557761del NC_000020.11:g.18557761del NC_000020.11:g.18557761dup NC_000020.11:g.18557760_18557761dup NC_000020.11:g.18557759_18557761dup NC_000020.11:g.18557758_18557761dup NC_000020.11:g.18557757_18557761dup NC_000020.11:g.18557756_18557761dup NC_000020.11:g.18557755_18557761dup NC_000020.11:g.18557746_18557761T[23]GA[2]T[6]AGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT[1] NC_000020.11:g.18557754_18557761dup NC_000020.11:g.18557753_18557761dup NC_000020.11:g.18557752_18557761dup NC_000020.11:g.18557751_18557761dup NC_000020.11:g.18557750_18557761dup NC_000020.11:g.18557749_18557761dup NC_000020.11:g.18557748_18557761dup NC_000020.11:g.18557747_18557761dup NC_000020.11:g.18557746_18557761T[31]CTTTTTTTTTTTTTTTTTT[2]TT[1] NC_000020.11:g.18557746_18557761dup NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557746_18557761T[37]CTTTTTTTTTTTTTTTTTTT[1] NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.18557761_18557762insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.18538390_18538405= NC_000020.10:g.18538397_18538405del NC_000020.10:g.18538401_18538405del NC_000020.10:g.18538403_18538405del NC_000020.10:g.18538404_18538405del NC_000020.10:g.18538405del NC_000020.10:g.18538405dup NC_000020.10:g.18538404_18538405dup NC_000020.10:g.18538403_18538405dup NC_000020.10:g.18538402_18538405dup NC_000020.10:g.18538401_18538405dup NC_000020.10:g.18538400_18538405dup NC_000020.10:g.18538399_18538405dup NC_000020.10:g.18538390_18538405T[23]GA[2]T[6]AGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT[1] NC_000020.10:g.18538398_18538405dup NC_000020.10:g.18538397_18538405dup NC_000020.10:g.18538396_18538405dup NC_000020.10:g.18538395_18538405dup NC_000020.10:g.18538394_18538405dup NC_000020.10:g.18538393_18538405dup NC_000020.10:g.18538392_18538405dup NC_000020.10:g.18538391_18538405dup NC_000020.10:g.18538390_18538405T[31]CTTTTTTTTTTTTTTTTTT[2]TT[1] NC_000020.10:g.18538390_18538405dup NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538390_18538405T[37]CTTTTTTTTTTTTTTTTTTT[1] NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.18538405_18538406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B RefSeqGene (LRG_1134) NG_016281.2:g.55265_55280= NG_016281.2:g.55272_55280del NG_016281.2:g.55276_55280del NG_016281.2:g.55278_55280del NG_016281.2:g.55279_55280del NG_016281.2:g.55280del NG_016281.2:g.55280dup NG_016281.2:g.55279_55280dup NG_016281.2:g.55278_55280dup NG_016281.2:g.55277_55280dup NG_016281.2:g.55276_55280dup NG_016281.2:g.55275_55280dup NG_016281.2:g.55274_55280dup NG_016281.2:g.55265_55280T[23]GA[2]T[6]AGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT[1] NG_016281.2:g.55273_55280dup NG_016281.2:g.55272_55280dup NG_016281.2:g.55271_55280dup NG_016281.2:g.55270_55280dup NG_016281.2:g.55269_55280dup NG_016281.2:g.55268_55280dup NG_016281.2:g.55267_55280dup NG_016281.2:g.55266_55280dup NG_016281.2:g.55265_55280T[31]CTTTTTTTTTTTTTTTTTT[2]TT[1] NG_016281.2:g.55265_55280dup NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55265_55280T[37]CTTTTTTTTTTTTTTTTTTT[1] NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_016281.2:g.55280_55281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 4 NM_001172745.1:c.2214+2573= NM_001172745.1:c.2214+2580_2214+2588del NM_001172745.1:c.2214+2584_2214+2588del NM_001172745.1:c.2214+2586_2214+2588del NM_001172745.1:c.2214+2587_2214+2588del NM_001172745.1:c.2214+2588del NM_001172745.1:c.2214+2588dup NM_001172745.1:c.2214+2587_2214+2588dup NM_001172745.1:c.2214+2586_2214+2588dup NM_001172745.1:c.2214+2585_2214+2588dup NM_001172745.1:c.2214+2584_2214+2588dup NM_001172745.1:c.2214+2583_2214+2588dup NM_001172745.1:c.2214+2582_2214+2588dup NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2581_2214+2588dup NM_001172745.1:c.2214+2580_2214+2588dup NM_001172745.1:c.2214+2579_2214+2588dup NM_001172745.1:c.2214+2578_2214+2588dup NM_001172745.1:c.2214+2577_2214+2588dup NM_001172745.1:c.2214+2576_2214+2588dup NM_001172745.1:c.2214+2575_2214+2588dup NM_001172745.1:c.2214+2574_2214+2588dup NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2573_2214+2588dup NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.1:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 4 NM_001172745.3:c.2214+2573= NM_001172745.3:c.2214+2580_2214+2588del NM_001172745.3:c.2214+2584_2214+2588del NM_001172745.3:c.2214+2586_2214+2588del NM_001172745.3:c.2214+2587_2214+2588del NM_001172745.3:c.2214+2588del NM_001172745.3:c.2214+2588dup NM_001172745.3:c.2214+2587_2214+2588dup NM_001172745.3:c.2214+2586_2214+2588dup NM_001172745.3:c.2214+2585_2214+2588dup NM_001172745.3:c.2214+2584_2214+2588dup NM_001172745.3:c.2214+2583_2214+2588dup NM_001172745.3:c.2214+2582_2214+2588dup NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2581_2214+2588dup NM_001172745.3:c.2214+2580_2214+2588dup NM_001172745.3:c.2214+2579_2214+2588dup NM_001172745.3:c.2214+2578_2214+2588dup NM_001172745.3:c.2214+2577_2214+2588dup NM_001172745.3:c.2214+2576_2214+2588dup NM_001172745.3:c.2214+2575_2214+2588dup NM_001172745.3:c.2214+2574_2214+2588dup NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2573_2214+2588dup NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172745.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 5 NM_001172746.1:c.2160+2573= NM_001172746.1:c.2160+2580_2160+2588del NM_001172746.1:c.2160+2584_2160+2588del NM_001172746.1:c.2160+2586_2160+2588del NM_001172746.1:c.2160+2587_2160+2588del NM_001172746.1:c.2160+2588del NM_001172746.1:c.2160+2588dup NM_001172746.1:c.2160+2587_2160+2588dup NM_001172746.1:c.2160+2586_2160+2588dup NM_001172746.1:c.2160+2585_2160+2588dup NM_001172746.1:c.2160+2584_2160+2588dup NM_001172746.1:c.2160+2583_2160+2588dup NM_001172746.1:c.2160+2582_2160+2588dup NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2581_2160+2588dup NM_001172746.1:c.2160+2580_2160+2588dup NM_001172746.1:c.2160+2579_2160+2588dup NM_001172746.1:c.2160+2578_2160+2588dup NM_001172746.1:c.2160+2577_2160+2588dup NM_001172746.1:c.2160+2576_2160+2588dup NM_001172746.1:c.2160+2575_2160+2588dup NM_001172746.1:c.2160+2574_2160+2588dup NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2573_2160+2588dup NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.1:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 5 NM_001172746.3:c.2160+2573= NM_001172746.3:c.2160+2580_2160+2588del NM_001172746.3:c.2160+2584_2160+2588del NM_001172746.3:c.2160+2586_2160+2588del NM_001172746.3:c.2160+2587_2160+2588del NM_001172746.3:c.2160+2588del NM_001172746.3:c.2160+2588dup NM_001172746.3:c.2160+2587_2160+2588dup NM_001172746.3:c.2160+2586_2160+2588dup NM_001172746.3:c.2160+2585_2160+2588dup NM_001172746.3:c.2160+2584_2160+2588dup NM_001172746.3:c.2160+2583_2160+2588dup NM_001172746.3:c.2160+2582_2160+2588dup NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2581_2160+2588dup NM_001172746.3:c.2160+2580_2160+2588dup NM_001172746.3:c.2160+2579_2160+2588dup NM_001172746.3:c.2160+2578_2160+2588dup NM_001172746.3:c.2160+2577_2160+2588dup NM_001172746.3:c.2160+2576_2160+2588dup NM_001172746.3:c.2160+2575_2160+2588dup NM_001172746.3:c.2160+2574_2160+2588dup NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2573_2160+2588dup NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001172746.3:c.2160+2588_2160+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 1 NM_006363.4:c.2214+2573= NM_006363.4:c.2214+2580_2214+2588del NM_006363.4:c.2214+2584_2214+2588del NM_006363.4:c.2214+2586_2214+2588del NM_006363.4:c.2214+2587_2214+2588del NM_006363.4:c.2214+2588del NM_006363.4:c.2214+2588dup NM_006363.4:c.2214+2587_2214+2588dup NM_006363.4:c.2214+2586_2214+2588dup NM_006363.4:c.2214+2585_2214+2588dup NM_006363.4:c.2214+2584_2214+2588dup NM_006363.4:c.2214+2583_2214+2588dup NM_006363.4:c.2214+2582_2214+2588dup NM_006363.4:c.2214+2588_2214+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2581_2214+2588dup NM_006363.4:c.2214+2580_2214+2588dup NM_006363.4:c.2214+2579_2214+2588dup NM_006363.4:c.2214+2578_2214+2588dup NM_006363.4:c.2214+2577_2214+2588dup NM_006363.4:c.2214+2576_2214+2588dup NM_006363.4:c.2214+2575_2214+2588dup NM_006363.4:c.2214+2574_2214+2588dup NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2573_2214+2588dup NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 1 NM_006363.6:c.2214+2573= NM_006363.6:c.2214+2580_2214+2588del NM_006363.6:c.2214+2584_2214+2588del NM_006363.6:c.2214+2586_2214+2588del NM_006363.6:c.2214+2587_2214+2588del NM_006363.6:c.2214+2588del NM_006363.6:c.2214+2588dup NM_006363.6:c.2214+2587_2214+2588dup NM_006363.6:c.2214+2586_2214+2588dup NM_006363.6:c.2214+2585_2214+2588dup NM_006363.6:c.2214+2584_2214+2588dup NM_006363.6:c.2214+2583_2214+2588dup NM_006363.6:c.2214+2582_2214+2588dup NM_006363.6:c.2214+2588_2214+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2581_2214+2588dup NM_006363.6:c.2214+2580_2214+2588dup NM_006363.6:c.2214+2579_2214+2588dup NM_006363.6:c.2214+2578_2214+2588dup NM_006363.6:c.2214+2577_2214+2588dup NM_006363.6:c.2214+2576_2214+2588dup NM_006363.6:c.2214+2575_2214+2588dup NM_006363.6:c.2214+2574_2214+2588dup NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2573_2214+2588dup NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006363.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 2 NM_032985.4:c.2214+2573= NM_032985.4:c.2214+2580_2214+2588del NM_032985.4:c.2214+2584_2214+2588del NM_032985.4:c.2214+2586_2214+2588del NM_032985.4:c.2214+2587_2214+2588del NM_032985.4:c.2214+2588del NM_032985.4:c.2214+2588dup NM_032985.4:c.2214+2587_2214+2588dup NM_032985.4:c.2214+2586_2214+2588dup NM_032985.4:c.2214+2585_2214+2588dup NM_032985.4:c.2214+2584_2214+2588dup NM_032985.4:c.2214+2583_2214+2588dup NM_032985.4:c.2214+2582_2214+2588dup NM_032985.4:c.2214+2588_2214+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2581_2214+2588dup NM_032985.4:c.2214+2580_2214+2588dup NM_032985.4:c.2214+2579_2214+2588dup NM_032985.4:c.2214+2578_2214+2588dup NM_032985.4:c.2214+2577_2214+2588dup NM_032985.4:c.2214+2576_2214+2588dup NM_032985.4:c.2214+2575_2214+2588dup NM_032985.4:c.2214+2574_2214+2588dup NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2573_2214+2588dup NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.4:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 2 NM_032985.6:c.2214+2573= NM_032985.6:c.2214+2580_2214+2588del NM_032985.6:c.2214+2584_2214+2588del NM_032985.6:c.2214+2586_2214+2588del NM_032985.6:c.2214+2587_2214+2588del NM_032985.6:c.2214+2588del NM_032985.6:c.2214+2588dup NM_032985.6:c.2214+2587_2214+2588dup NM_032985.6:c.2214+2586_2214+2588dup NM_032985.6:c.2214+2585_2214+2588dup NM_032985.6:c.2214+2584_2214+2588dup NM_032985.6:c.2214+2583_2214+2588dup NM_032985.6:c.2214+2582_2214+2588dup NM_032985.6:c.2214+2588_2214+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2581_2214+2588dup NM_032985.6:c.2214+2580_2214+2588dup NM_032985.6:c.2214+2579_2214+2588dup NM_032985.6:c.2214+2578_2214+2588dup NM_032985.6:c.2214+2577_2214+2588dup NM_032985.6:c.2214+2576_2214+2588dup NM_032985.6:c.2214+2575_2214+2588dup NM_032985.6:c.2214+2574_2214+2588dup NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2573_2214+2588dup NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032985.6:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 3 NM_032986.3:c.2214+2573= NM_032986.3:c.2214+2580_2214+2588del NM_032986.3:c.2214+2584_2214+2588del NM_032986.3:c.2214+2586_2214+2588del NM_032986.3:c.2214+2587_2214+2588del NM_032986.3:c.2214+2588del NM_032986.3:c.2214+2588dup NM_032986.3:c.2214+2587_2214+2588dup NM_032986.3:c.2214+2586_2214+2588dup NM_032986.3:c.2214+2585_2214+2588dup NM_032986.3:c.2214+2584_2214+2588dup NM_032986.3:c.2214+2583_2214+2588dup NM_032986.3:c.2214+2582_2214+2588dup NM_032986.3:c.2214+2588_2214+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2581_2214+2588dup NM_032986.3:c.2214+2580_2214+2588dup NM_032986.3:c.2214+2579_2214+2588dup NM_032986.3:c.2214+2578_2214+2588dup NM_032986.3:c.2214+2577_2214+2588dup NM_032986.3:c.2214+2576_2214+2588dup NM_032986.3:c.2214+2575_2214+2588dup NM_032986.3:c.2214+2574_2214+2588dup NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2573_2214+2588dup NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.3:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SEC23B transcript variant 3 NM_032986.5:c.2214+2573= NM_032986.5:c.2214+2580_2214+2588del NM_032986.5:c.2214+2584_2214+2588del NM_032986.5:c.2214+2586_2214+2588del NM_032986.5:c.2214+2587_2214+2588del NM_032986.5:c.2214+2588del NM_032986.5:c.2214+2588dup NM_032986.5:c.2214+2587_2214+2588dup NM_032986.5:c.2214+2586_2214+2588dup NM_032986.5:c.2214+2585_2214+2588dup NM_032986.5:c.2214+2584_2214+2588dup NM_032986.5:c.2214+2583_2214+2588dup NM_032986.5:c.2214+2582_2214+2588dup NM_032986.5:c.2214+2588_2214+2589insTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2581_2214+2588dup NM_032986.5:c.2214+2580_2214+2588dup NM_032986.5:c.2214+2579_2214+2588dup NM_032986.5:c.2214+2578_2214+2588dup NM_032986.5:c.2214+2577_2214+2588dup NM_032986.5:c.2214+2576_2214+2588dup NM_032986.5:c.2214+2575_2214+2588dup NM_032986.5:c.2214+2574_2214+2588dup NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2573_2214+2588dup NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_032986.5:c.2214+2588_2214+2589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

70 SubSNP, 45 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95737485 Feb 06, 2009 (137)
2 GMI ss289405174 May 04, 2012 (137)
3 PJP ss295042226 May 09, 2011 (134)
4 SSMP ss664465374 Apr 01, 2015 (144)
5 BILGI_BIOE ss666741995 Apr 25, 2013 (138)
6 HAMMER_LAB ss1809449564 Sep 08, 2015 (146)
7 SYSTEMSBIOZJU ss2629416030 Nov 08, 2017 (151)
8 SWEGEN ss3017964080 Jan 10, 2018 (151)
9 URBANLAB ss3650985386 Oct 12, 2018 (152)
10 EVA_DECODE ss3706677780 Jul 13, 2019 (153)
11 EVA_DECODE ss3706677781 Jul 13, 2019 (153)
12 EVA_DECODE ss3706677782 Jul 13, 2019 (153)
13 EVA_DECODE ss3706677783 Jul 13, 2019 (153)
14 PACBIO ss3788616066 Jul 13, 2019 (153)
15 PACBIO ss3788616067 Jul 13, 2019 (153)
16 PACBIO ss3793514013 Jul 13, 2019 (153)
17 PACBIO ss3798401188 Jul 13, 2019 (153)
18 EVA ss3835620596 Apr 27, 2020 (154)
19 EVA ss3846944542 Apr 27, 2020 (154)
20 GNOMAD ss4336068645 Apr 27, 2021 (155)
21 GNOMAD ss4336068646 Apr 27, 2021 (155)
22 GNOMAD ss4336068647 Apr 27, 2021 (155)
23 GNOMAD ss4336068648 Apr 27, 2021 (155)
24 GNOMAD ss4336068649 Apr 27, 2021 (155)
25 GNOMAD ss4336068650 Apr 27, 2021 (155)
26 GNOMAD ss4336068651 Apr 27, 2021 (155)
27 GNOMAD ss4336068652 Apr 27, 2021 (155)
28 GNOMAD ss4336068653 Apr 27, 2021 (155)
29 GNOMAD ss4336068654 Apr 27, 2021 (155)
30 GNOMAD ss4336068655 Apr 27, 2021 (155)
31 GNOMAD ss4336068656 Apr 27, 2021 (155)
32 GNOMAD ss4336068657 Apr 27, 2021 (155)
33 GNOMAD ss4336068658 Apr 27, 2021 (155)
34 GNOMAD ss4336068659 Apr 27, 2021 (155)
35 GNOMAD ss4336068660 Apr 27, 2021 (155)
36 GNOMAD ss4336068661 Apr 27, 2021 (155)
37 GNOMAD ss4336068662 Apr 27, 2021 (155)
38 GNOMAD ss4336068663 Apr 27, 2021 (155)
39 GNOMAD ss4336068664 Apr 27, 2021 (155)
40 GNOMAD ss4336068665 Apr 27, 2021 (155)
41 GNOMAD ss4336068666 Apr 27, 2021 (155)
42 GNOMAD ss4336068667 Apr 27, 2021 (155)
43 GNOMAD ss4336068668 Apr 27, 2021 (155)
44 GNOMAD ss4336068669 Apr 27, 2021 (155)
45 GNOMAD ss4336068670 Apr 27, 2021 (155)
46 GNOMAD ss4336068671 Apr 27, 2021 (155)
47 GNOMAD ss4336068672 Apr 27, 2021 (155)
48 GNOMAD ss4336068673 Apr 27, 2021 (155)
49 GNOMAD ss4336068675 Apr 27, 2021 (155)
50 GNOMAD ss4336068676 Apr 27, 2021 (155)
51 GNOMAD ss4336068677 Apr 27, 2021 (155)
52 GNOMAD ss4336068678 Apr 27, 2021 (155)
53 TOMMO_GENOMICS ss5229103750 Apr 27, 2021 (155)
54 TOMMO_GENOMICS ss5229103751 Apr 27, 2021 (155)
55 TOMMO_GENOMICS ss5229103752 Apr 27, 2021 (155)
56 TOMMO_GENOMICS ss5229103753 Apr 27, 2021 (155)
57 1000G_HIGH_COVERAGE ss5308290041 Oct 13, 2022 (156)
58 1000G_HIGH_COVERAGE ss5308290042 Oct 13, 2022 (156)
59 1000G_HIGH_COVERAGE ss5308290043 Oct 13, 2022 (156)
60 HUGCELL_USP ss5500673257 Oct 13, 2022 (156)
61 HUGCELL_USP ss5500673258 Oct 13, 2022 (156)
62 HUGCELL_USP ss5500673259 Oct 13, 2022 (156)
63 HUGCELL_USP ss5500673260 Oct 13, 2022 (156)
64 TOMMO_GENOMICS ss5788164305 Oct 13, 2022 (156)
65 TOMMO_GENOMICS ss5788164307 Oct 13, 2022 (156)
66 TOMMO_GENOMICS ss5788164308 Oct 13, 2022 (156)
67 TOMMO_GENOMICS ss5788164309 Oct 13, 2022 (156)
68 YY_MCH ss5817869409 Oct 13, 2022 (156)
69 EVA ss5853095746 Oct 13, 2022 (156)
70 EVA ss5922913713 Oct 13, 2022 (156)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
104 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 548162074 (NC_000020.11:18557745::T 1156/107254)
Row 548162075 (NC_000020.11:18557745::TT 26/107280)
Row 548162076 (NC_000020.11:18557745::TTT 8/107282)...

- Apr 27, 2021 (155)
107 8.3KJPN

Submission ignored due to conflicting rows:
Row 87073057 (NC_000020.10:18538389:T: 13171/16720)
Row 87073058 (NC_000020.10:18538389::T 16/16720)
Row 87073059 (NC_000020.10:18538389::TTTTTTTTTTT 35/16720)...

- Apr 27, 2021 (155)
108 8.3KJPN

Submission ignored due to conflicting rows:
Row 87073057 (NC_000020.10:18538389:T: 13171/16720)
Row 87073058 (NC_000020.10:18538389::T 16/16720)
Row 87073059 (NC_000020.10:18538389::TTTTTTTTTTT 35/16720)...

- Apr 27, 2021 (155)
109 8.3KJPN

Submission ignored due to conflicting rows:
Row 87073057 (NC_000020.10:18538389:T: 13171/16720)
Row 87073058 (NC_000020.10:18538389::T 16/16720)
Row 87073059 (NC_000020.10:18538389::TTTTTTTTTTT 35/16720)...

- Apr 27, 2021 (155)
110 8.3KJPN

Submission ignored due to conflicting rows:
Row 87073057 (NC_000020.10:18538389:T: 13171/16720)
Row 87073058 (NC_000020.10:18538389::T 16/16720)
Row 87073059 (NC_000020.10:18538389::TTTTTTTTTTT 35/16720)...

- Apr 27, 2021 (155)
111 14KJPN

Submission ignored due to conflicting rows:
Row 122001409 (NC_000020.11:18557745:T: 19490/25482)
Row 122001411 (NC_000020.11:18557745:TT: 31/25482)
Row 122001412 (NC_000020.11:18557745::TTTTTTTTTTT 29/25482)...

- Oct 13, 2022 (156)
112 14KJPN

Submission ignored due to conflicting rows:
Row 122001409 (NC_000020.11:18557745:T: 19490/25482)
Row 122001411 (NC_000020.11:18557745:TT: 31/25482)
Row 122001412 (NC_000020.11:18557745::TTTTTTTTTTT 29/25482)...

- Oct 13, 2022 (156)
113 14KJPN

Submission ignored due to conflicting rows:
Row 122001409 (NC_000020.11:18557745:T: 19490/25482)
Row 122001411 (NC_000020.11:18557745:TT: 31/25482)
Row 122001412 (NC_000020.11:18557745::TTTTTTTTTTT 29/25482)...

- Oct 13, 2022 (156)
114 14KJPN

Submission ignored due to conflicting rows:
Row 122001409 (NC_000020.11:18557745:T: 19490/25482)
Row 122001411 (NC_000020.11:18557745:TT: 31/25482)
Row 122001412 (NC_000020.11:18557745::TTTTTTTTTTT 29/25482)...

- Oct 13, 2022 (156)
115 ALFA NC_000020.11 - 18557746 Apr 27, 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)
rs67866418 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4336068678 NC_000020.11:18557745:TTTTTTTTT: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTT

(self)
ss4336068677 NC_000020.11:18557745:TTTTT: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss4336068676, ss5500673260 NC_000020.11:18557745:TTT: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss3017964080, ss3788616066 NC_000020.10:18538389:TT: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss3706677780, ss4336068675, ss5308290043, ss5500673257, ss5788164307 NC_000020.11:18557745:TT: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss289405174, ss295042226 NC_000020.9:18486389:T: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss664465374, ss666741995, ss1809449564, ss2629416030, ss3788616067, ss3793514013, ss3798401188, ss3835620596, ss5229103750 NC_000020.10:18538389:T: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss3650985386, ss3846944542, ss5308290041, ss5500673258, ss5788164305, ss5817869409, ss5853095746, ss5922913713 NC_000020.11:18557745:T: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss3706677781 NC_000020.11:18557746:T: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss95737485 NT_011387.8:18478404:T: NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss5229103751 NC_000020.10:18538389::T NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4336068645, ss5308290042, ss5500673259, ss5788164309 NC_000020.11:18557745::T NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3706677782 NC_000020.11:18557747::T NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4336068646 NC_000020.11:18557745::TT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4336068647 NC_000020.11:18557745::TTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4336068648 NC_000020.11:18557745::TTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4336068649 NC_000020.11:18557745::TTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068650 NC_000020.11:18557745::TTTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068651 NC_000020.11:18557745::TTTTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGAGATTTTTTAGCCATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT

(self)
ss4336068652 NC_000020.11:18557745::TTTTTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3706677783 NC_000020.11:18557747::TTTTTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068653 NC_000020.11:18557745::TTTTTTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068654 NC_000020.11:18557745::TTTTTTTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5229103752 NC_000020.10:18538389::TTTTTTTTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068655, ss5788164308 NC_000020.11:18557745::TTTTTTTTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068656 NC_000020.11:18557745::TTTTTTTTTTTT NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068657 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068658 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068659 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068660 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068661 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068662 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5229103753 NC_000020.10:18538389::TTTTTTTTTTT…

NC_000020.10:18538389::TTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068663 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068664 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068665 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068673 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT

(self)
ss4336068666 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
2021885147 NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068667 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068668 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068669 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068670 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068671 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4336068672 NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
NC_000020.11:18557745::TTTTTTTTTTT…

NC_000020.11:18557745::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:18557745:TTTTTTTTTTTT…

NC_000020.11:18557745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(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 rs11477198

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