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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.

rs71121888

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:26542734-26542751 (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(A)7 / del(A)6 / del(A)5 / del(…

del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)6 / ins(A)39 / insT(A)26

Variation Type
Indel Insertion and Deletion
Frequency
(A)18=0.1066 (534/5008, 1000G)
del(A)6=0.000 (0/156, ALFA)
del(A)4=0.000 (0/156, ALFA) (+ 6 more)
delAAA=0.000 (0/156, ALFA)
delAA=0.000 (0/156, ALFA)
delA=0.000 (0/156, ALFA)
dupA=0.000 (0/156, ALFA)
dupAA=0.000 (0/156, ALFA)
dupAAA=0.000 (0/156, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NOVA1 : 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 156 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 12 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Sub 138 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 10 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 128 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 2 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 4 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A


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
1000Genomes Global Study-wide 5008 (A)18=0.1066 delA=0.8934
1000Genomes African Sub 1322 (A)18=0.3268 delA=0.6732
1000Genomes East Asian Sub 1008 (A)18=0.0169 delA=0.9831
1000Genomes Europe Sub 1006 (A)18=0.0298 delA=0.9702
1000Genomes South Asian Sub 978 (A)18=0.020 delA=0.980
1000Genomes American Sub 694 (A)18=0.050 delA=0.950
Allele Frequency Aggregator Total Global 156 (A)18=1.000 del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator African Sub 138 (A)18=1.000 del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator European Sub 12 (A)18=1.00 del(A)6=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Other Sub 4 (A)18=1.0 del(A)6=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator Latin American 1 Sub 2 (A)18=1.0 del(A)6=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator Latin American 2 Sub 0 (A)18=0 del(A)6=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator South Asian Sub 0 (A)18=0 del(A)6=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator Asian Sub 0 (A)18=0 del(A)6=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=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 14 NC_000014.9:g.26542745_26542751del
GRCh38.p14 chr 14 NC_000014.9:g.26542746_26542751del
GRCh38.p14 chr 14 NC_000014.9:g.26542747_26542751del
GRCh38.p14 chr 14 NC_000014.9:g.26542748_26542751del
GRCh38.p14 chr 14 NC_000014.9:g.26542749_26542751del
GRCh38.p14 chr 14 NC_000014.9:g.26542750_26542751del
GRCh38.p14 chr 14 NC_000014.9:g.26542751del
GRCh38.p14 chr 14 NC_000014.9:g.26542751dup
GRCh38.p14 chr 14 NC_000014.9:g.26542750_26542751dup
GRCh38.p14 chr 14 NC_000014.9:g.26542749_26542751dup
GRCh38.p14 chr 14 NC_000014.9:g.26542746_26542751dup
GRCh38.p14 chr 14 NC_000014.9:g.26542751_26542752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 14 NC_000014.9:g.26542734_26542751A[18]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 14 NC_000014.8:g.27011951_27011957del
GRCh37.p13 chr 14 NC_000014.8:g.27011952_27011957del
GRCh37.p13 chr 14 NC_000014.8:g.27011953_27011957del
GRCh37.p13 chr 14 NC_000014.8:g.27011954_27011957del
GRCh37.p13 chr 14 NC_000014.8:g.27011955_27011957del
GRCh37.p13 chr 14 NC_000014.8:g.27011956_27011957del
GRCh37.p13 chr 14 NC_000014.8:g.27011957del
GRCh37.p13 chr 14 NC_000014.8:g.27011957dup
GRCh37.p13 chr 14 NC_000014.8:g.27011956_27011957dup
GRCh37.p13 chr 14 NC_000014.8:g.27011955_27011957dup
GRCh37.p13 chr 14 NC_000014.8:g.27011952_27011957dup
GRCh37.p13 chr 14 NC_000014.8:g.27011957_27011958insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 14 NC_000014.8:g.27011940_27011957A[18]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
Gene: NOVA1, NOVA alternative splicing regulator 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NOVA1 transcript variant 4 NM_001366390.2:c.-87+6940…

NM_001366390.2:c.-87+6940_-87+6946del

N/A Intron Variant
NOVA1 transcript variant 5 NM_001366391.2:c.-87+6940…

NM_001366391.2:c.-87+6940_-87+6946del

N/A Intron Variant
NOVA1 transcript variant 6 NM_001366392.2:c.277+5267…

NM_001366392.2:c.277+52670_277+52676del

N/A Intron Variant
NOVA1 transcript variant 7 NM_001366393.2:c.169+5267…

NM_001366393.2:c.169+52670_169+52676del

N/A Intron Variant
NOVA1 transcript variant 8 NM_001366394.2:c.169+5267…

NM_001366394.2:c.169+52670_169+52676del

N/A Intron Variant
NOVA1 transcript variant 9 NM_001366395.2:c.-87+6940…

NM_001366395.2:c.-87+6940_-87+6946del

N/A Intron Variant
NOVA1 transcript variant 10 NM_001366396.2:c.-87+6940…

NM_001366396.2:c.-87+6940_-87+6946del

N/A Intron Variant
NOVA1 transcript variant 11 NM_001366397.2:c.-87+5267…

NM_001366397.2:c.-87+52670_-87+52676del

N/A Intron Variant
NOVA1 transcript variant 12 NM_001366398.2:c.-87+6940…

NM_001366398.2:c.-87+6940_-87+6946del

N/A Intron Variant
NOVA1 transcript variant 1 NM_002515.3:c.280+52670_2…

NM_002515.3:c.280+52670_280+52676del

N/A Intron Variant
NOVA1 transcript variant 2 NM_006489.3:c.280+52670_2…

NM_006489.3:c.280+52670_280+52676del

N/A Intron Variant
NOVA1 transcript variant 3 NM_006491.3:c.280+52670_2…

NM_006491.3:c.280+52670_280+52676del

N/A Intron Variant
NOVA1 transcript variant X1 XM_017021345.2:c.-87+5267…

XM_017021345.2:c.-87+52670_-87+52676del

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 (A)18= del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)6 ins(A)39 insT(A)26
GRCh38.p14 chr 14 NC_000014.9:g.26542734_26542751= NC_000014.9:g.26542745_26542751del NC_000014.9:g.26542746_26542751del NC_000014.9:g.26542747_26542751del NC_000014.9:g.26542748_26542751del NC_000014.9:g.26542749_26542751del NC_000014.9:g.26542750_26542751del NC_000014.9:g.26542751del NC_000014.9:g.26542751dup NC_000014.9:g.26542750_26542751dup NC_000014.9:g.26542749_26542751dup NC_000014.9:g.26542746_26542751dup NC_000014.9:g.26542751_26542752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000014.9:g.26542734_26542751A[18]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 14 NC_000014.8:g.27011940_27011957= NC_000014.8:g.27011951_27011957del NC_000014.8:g.27011952_27011957del NC_000014.8:g.27011953_27011957del NC_000014.8:g.27011954_27011957del NC_000014.8:g.27011955_27011957del NC_000014.8:g.27011956_27011957del NC_000014.8:g.27011957del NC_000014.8:g.27011957dup NC_000014.8:g.27011956_27011957dup NC_000014.8:g.27011955_27011957dup NC_000014.8:g.27011952_27011957dup NC_000014.8:g.27011957_27011958insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000014.8:g.27011940_27011957A[18]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
NOVA1 transcript variant 4 NM_001366390.2:c.-87+6946= NM_001366390.2:c.-87+6940_-87+6946del NM_001366390.2:c.-87+6941_-87+6946del NM_001366390.2:c.-87+6942_-87+6946del NM_001366390.2:c.-87+6943_-87+6946del NM_001366390.2:c.-87+6944_-87+6946del NM_001366390.2:c.-87+6945_-87+6946del NM_001366390.2:c.-87+6946del NM_001366390.2:c.-87+6946dup NM_001366390.2:c.-87+6945_-87+6946dup NM_001366390.2:c.-87+6944_-87+6946dup NM_001366390.2:c.-87+6941_-87+6946dup NM_001366390.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001366390.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 5 NM_001366391.2:c.-87+6946= NM_001366391.2:c.-87+6940_-87+6946del NM_001366391.2:c.-87+6941_-87+6946del NM_001366391.2:c.-87+6942_-87+6946del NM_001366391.2:c.-87+6943_-87+6946del NM_001366391.2:c.-87+6944_-87+6946del NM_001366391.2:c.-87+6945_-87+6946del NM_001366391.2:c.-87+6946del NM_001366391.2:c.-87+6946dup NM_001366391.2:c.-87+6945_-87+6946dup NM_001366391.2:c.-87+6944_-87+6946dup NM_001366391.2:c.-87+6941_-87+6946dup NM_001366391.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001366391.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 6 NM_001366392.2:c.277+52676= NM_001366392.2:c.277+52670_277+52676del NM_001366392.2:c.277+52671_277+52676del NM_001366392.2:c.277+52672_277+52676del NM_001366392.2:c.277+52673_277+52676del NM_001366392.2:c.277+52674_277+52676del NM_001366392.2:c.277+52675_277+52676del NM_001366392.2:c.277+52676del NM_001366392.2:c.277+52676dup NM_001366392.2:c.277+52675_277+52676dup NM_001366392.2:c.277+52674_277+52676dup NM_001366392.2:c.277+52671_277+52676dup NM_001366392.2:c.277+52676_277+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001366392.2:c.277+52676_277+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 7 NM_001366393.2:c.169+52676= NM_001366393.2:c.169+52670_169+52676del NM_001366393.2:c.169+52671_169+52676del NM_001366393.2:c.169+52672_169+52676del NM_001366393.2:c.169+52673_169+52676del NM_001366393.2:c.169+52674_169+52676del NM_001366393.2:c.169+52675_169+52676del NM_001366393.2:c.169+52676del NM_001366393.2:c.169+52676dup NM_001366393.2:c.169+52675_169+52676dup NM_001366393.2:c.169+52674_169+52676dup NM_001366393.2:c.169+52671_169+52676dup NM_001366393.2:c.169+52676_169+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001366393.2:c.169+52676_169+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 8 NM_001366394.2:c.169+52676= NM_001366394.2:c.169+52670_169+52676del NM_001366394.2:c.169+52671_169+52676del NM_001366394.2:c.169+52672_169+52676del NM_001366394.2:c.169+52673_169+52676del NM_001366394.2:c.169+52674_169+52676del NM_001366394.2:c.169+52675_169+52676del NM_001366394.2:c.169+52676del NM_001366394.2:c.169+52676dup NM_001366394.2:c.169+52675_169+52676dup NM_001366394.2:c.169+52674_169+52676dup NM_001366394.2:c.169+52671_169+52676dup NM_001366394.2:c.169+52676_169+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001366394.2:c.169+52676_169+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 9 NM_001366395.2:c.-87+6946= NM_001366395.2:c.-87+6940_-87+6946del NM_001366395.2:c.-87+6941_-87+6946del NM_001366395.2:c.-87+6942_-87+6946del NM_001366395.2:c.-87+6943_-87+6946del NM_001366395.2:c.-87+6944_-87+6946del NM_001366395.2:c.-87+6945_-87+6946del NM_001366395.2:c.-87+6946del NM_001366395.2:c.-87+6946dup NM_001366395.2:c.-87+6945_-87+6946dup NM_001366395.2:c.-87+6944_-87+6946dup NM_001366395.2:c.-87+6941_-87+6946dup NM_001366395.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001366395.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 10 NM_001366396.2:c.-87+6946= NM_001366396.2:c.-87+6940_-87+6946del NM_001366396.2:c.-87+6941_-87+6946del NM_001366396.2:c.-87+6942_-87+6946del NM_001366396.2:c.-87+6943_-87+6946del NM_001366396.2:c.-87+6944_-87+6946del NM_001366396.2:c.-87+6945_-87+6946del NM_001366396.2:c.-87+6946del NM_001366396.2:c.-87+6946dup NM_001366396.2:c.-87+6945_-87+6946dup NM_001366396.2:c.-87+6944_-87+6946dup NM_001366396.2:c.-87+6941_-87+6946dup NM_001366396.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001366396.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 11 NM_001366397.2:c.-87+52676= NM_001366397.2:c.-87+52670_-87+52676del NM_001366397.2:c.-87+52671_-87+52676del NM_001366397.2:c.-87+52672_-87+52676del NM_001366397.2:c.-87+52673_-87+52676del NM_001366397.2:c.-87+52674_-87+52676del NM_001366397.2:c.-87+52675_-87+52676del NM_001366397.2:c.-87+52676del NM_001366397.2:c.-87+52676dup NM_001366397.2:c.-87+52675_-87+52676dup NM_001366397.2:c.-87+52674_-87+52676dup NM_001366397.2:c.-87+52671_-87+52676dup NM_001366397.2:c.-87+52676_-87+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001366397.2:c.-87+52676_-87+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 12 NM_001366398.2:c.-87+6946= NM_001366398.2:c.-87+6940_-87+6946del NM_001366398.2:c.-87+6941_-87+6946del NM_001366398.2:c.-87+6942_-87+6946del NM_001366398.2:c.-87+6943_-87+6946del NM_001366398.2:c.-87+6944_-87+6946del NM_001366398.2:c.-87+6945_-87+6946del NM_001366398.2:c.-87+6946del NM_001366398.2:c.-87+6946dup NM_001366398.2:c.-87+6945_-87+6946dup NM_001366398.2:c.-87+6944_-87+6946dup NM_001366398.2:c.-87+6941_-87+6946dup NM_001366398.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001366398.2:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 1 NM_002515.2:c.280+52676= NM_002515.2:c.280+52670_280+52676del NM_002515.2:c.280+52671_280+52676del NM_002515.2:c.280+52672_280+52676del NM_002515.2:c.280+52673_280+52676del NM_002515.2:c.280+52674_280+52676del NM_002515.2:c.280+52675_280+52676del NM_002515.2:c.280+52676del NM_002515.2:c.280+52676dup NM_002515.2:c.280+52675_280+52676dup NM_002515.2:c.280+52674_280+52676dup NM_002515.2:c.280+52671_280+52676dup NM_002515.2:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_002515.2:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 1 NM_002515.3:c.280+52676= NM_002515.3:c.280+52670_280+52676del NM_002515.3:c.280+52671_280+52676del NM_002515.3:c.280+52672_280+52676del NM_002515.3:c.280+52673_280+52676del NM_002515.3:c.280+52674_280+52676del NM_002515.3:c.280+52675_280+52676del NM_002515.3:c.280+52676del NM_002515.3:c.280+52676dup NM_002515.3:c.280+52675_280+52676dup NM_002515.3:c.280+52674_280+52676dup NM_002515.3:c.280+52671_280+52676dup NM_002515.3:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_002515.3:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 2 NM_006489.2:c.280+52676= NM_006489.2:c.280+52670_280+52676del NM_006489.2:c.280+52671_280+52676del NM_006489.2:c.280+52672_280+52676del NM_006489.2:c.280+52673_280+52676del NM_006489.2:c.280+52674_280+52676del NM_006489.2:c.280+52675_280+52676del NM_006489.2:c.280+52676del NM_006489.2:c.280+52676dup NM_006489.2:c.280+52675_280+52676dup NM_006489.2:c.280+52674_280+52676dup NM_006489.2:c.280+52671_280+52676dup NM_006489.2:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006489.2:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 2 NM_006489.3:c.280+52676= NM_006489.3:c.280+52670_280+52676del NM_006489.3:c.280+52671_280+52676del NM_006489.3:c.280+52672_280+52676del NM_006489.3:c.280+52673_280+52676del NM_006489.3:c.280+52674_280+52676del NM_006489.3:c.280+52675_280+52676del NM_006489.3:c.280+52676del NM_006489.3:c.280+52676dup NM_006489.3:c.280+52675_280+52676dup NM_006489.3:c.280+52674_280+52676dup NM_006489.3:c.280+52671_280+52676dup NM_006489.3:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006489.3:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 3 NM_006491.2:c.280+52676= NM_006491.2:c.280+52670_280+52676del NM_006491.2:c.280+52671_280+52676del NM_006491.2:c.280+52672_280+52676del NM_006491.2:c.280+52673_280+52676del NM_006491.2:c.280+52674_280+52676del NM_006491.2:c.280+52675_280+52676del NM_006491.2:c.280+52676del NM_006491.2:c.280+52676dup NM_006491.2:c.280+52675_280+52676dup NM_006491.2:c.280+52674_280+52676dup NM_006491.2:c.280+52671_280+52676dup NM_006491.2:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006491.2:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant 3 NM_006491.3:c.280+52676= NM_006491.3:c.280+52670_280+52676del NM_006491.3:c.280+52671_280+52676del NM_006491.3:c.280+52672_280+52676del NM_006491.3:c.280+52673_280+52676del NM_006491.3:c.280+52674_280+52676del NM_006491.3:c.280+52675_280+52676del NM_006491.3:c.280+52676del NM_006491.3:c.280+52676dup NM_006491.3:c.280+52675_280+52676dup NM_006491.3:c.280+52674_280+52676dup NM_006491.3:c.280+52671_280+52676dup NM_006491.3:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006491.3:c.280+52676_280+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant X1 XM_005267706.1:c.169+52676= XM_005267706.1:c.169+52670_169+52676del XM_005267706.1:c.169+52671_169+52676del XM_005267706.1:c.169+52672_169+52676del XM_005267706.1:c.169+52673_169+52676del XM_005267706.1:c.169+52674_169+52676del XM_005267706.1:c.169+52675_169+52676del XM_005267706.1:c.169+52676del XM_005267706.1:c.169+52676dup XM_005267706.1:c.169+52675_169+52676dup XM_005267706.1:c.169+52674_169+52676dup XM_005267706.1:c.169+52671_169+52676dup XM_005267706.1:c.169+52676_169+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005267706.1:c.169+52676_169+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant X2 XM_005267707.1:c.-87+6946= XM_005267707.1:c.-87+6940_-87+6946del XM_005267707.1:c.-87+6941_-87+6946del XM_005267707.1:c.-87+6942_-87+6946del XM_005267707.1:c.-87+6943_-87+6946del XM_005267707.1:c.-87+6944_-87+6946del XM_005267707.1:c.-87+6945_-87+6946del XM_005267707.1:c.-87+6946del XM_005267707.1:c.-87+6946dup XM_005267707.1:c.-87+6945_-87+6946dup XM_005267707.1:c.-87+6944_-87+6946dup XM_005267707.1:c.-87+6941_-87+6946dup XM_005267707.1:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005267707.1:c.-87+6946_-87+6947insTTTTTTTTTTTTTTTTTTTTTTTTTTA
NOVA1 transcript variant X1 XM_017021345.2:c.-87+52676= XM_017021345.2:c.-87+52670_-87+52676del XM_017021345.2:c.-87+52671_-87+52676del XM_017021345.2:c.-87+52672_-87+52676del XM_017021345.2:c.-87+52673_-87+52676del XM_017021345.2:c.-87+52674_-87+52676del XM_017021345.2:c.-87+52675_-87+52676del XM_017021345.2:c.-87+52676del XM_017021345.2:c.-87+52676dup XM_017021345.2:c.-87+52675_-87+52676dup XM_017021345.2:c.-87+52674_-87+52676dup XM_017021345.2:c.-87+52671_-87+52676dup XM_017021345.2:c.-87+52676_-87+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017021345.2:c.-87+52676_-87+52677insTTTTTTTTTTTTTTTTTTTTTTTTTTA
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#.

60 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95635905 Dec 05, 2013 (138)
2 GMI ss289210002 May 04, 2012 (137)
3 PJP ss294824322 May 09, 2011 (137)
4 SSMP ss664216691 Apr 01, 2015 (144)
5 BILGI_BIOE ss666619394 Apr 25, 2013 (138)
6 1000GENOMES ss1373849170 Aug 21, 2014 (142)
7 EVA_UK10K_TWINSUK ss1707978275 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1707992949 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1710627500 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1710627502 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1710627590 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1710627592 Apr 01, 2015 (144)
13 SWEGEN ss3011905727 Nov 08, 2017 (151)
14 MCHAISSO ss3063786856 Nov 08, 2017 (151)
15 MCHAISSO ss3064621036 Nov 08, 2017 (151)
16 MCHAISSO ss3065547387 Nov 08, 2017 (151)
17 BIOINF_KMB_FNS_UNIBA ss3645335438 Oct 12, 2018 (152)
18 URBANLAB ss3650165991 Oct 12, 2018 (152)
19 EVA_DECODE ss3696321757 Jul 13, 2019 (153)
20 EVA_DECODE ss3696321758 Jul 13, 2019 (153)
21 EVA_DECODE ss3696321759 Jul 13, 2019 (153)
22 EVA_DECODE ss3696321760 Jul 13, 2019 (153)
23 ACPOP ss3740220534 Jul 13, 2019 (153)
24 ACPOP ss3740220535 Jul 13, 2019 (153)
25 ACPOP ss3740220536 Jul 13, 2019 (153)
26 PACBIO ss3787615514 Jul 13, 2019 (153)
27 PACBIO ss3792662133 Jul 13, 2019 (153)
28 PACBIO ss3797546216 Jul 13, 2019 (153)
29 KHV_HUMAN_GENOMES ss3817435903 Jul 13, 2019 (153)
30 EVA ss3833824330 Apr 27, 2020 (154)
31 GNOMAD ss4274888026 Apr 26, 2021 (155)
32 GNOMAD ss4274888027 Apr 26, 2021 (155)
33 GNOMAD ss4274888028 Apr 26, 2021 (155)
34 GNOMAD ss4274888029 Apr 26, 2021 (155)
35 GNOMAD ss4274888030 Apr 26, 2021 (155)
36 GNOMAD ss4274888031 Apr 26, 2021 (155)
37 GNOMAD ss4274888032 Apr 26, 2021 (155)
38 GNOMAD ss4274888033 Apr 26, 2021 (155)
39 GNOMAD ss4274888034 Apr 26, 2021 (155)
40 GNOMAD ss4274888035 Apr 26, 2021 (155)
41 GNOMAD ss4274888036 Apr 26, 2021 (155)
42 GNOMAD ss4274888037 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5212415417 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5212415418 Apr 26, 2021 (155)
45 1000G_HIGH_COVERAGE ss5295584351 Oct 16, 2022 (156)
46 1000G_HIGH_COVERAGE ss5295584352 Oct 16, 2022 (156)
47 1000G_HIGH_COVERAGE ss5295584353 Oct 16, 2022 (156)
48 1000G_HIGH_COVERAGE ss5295584354 Oct 16, 2022 (156)
49 1000G_HIGH_COVERAGE ss5295584355 Oct 16, 2022 (156)
50 HUGCELL_USP ss5489704573 Oct 16, 2022 (156)
51 HUGCELL_USP ss5489704574 Oct 16, 2022 (156)
52 HUGCELL_USP ss5489704575 Oct 16, 2022 (156)
53 TOMMO_GENOMICS ss5764983643 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5764983644 Oct 16, 2022 (156)
55 TOMMO_GENOMICS ss5764983645 Oct 16, 2022 (156)
56 TOMMO_GENOMICS ss5764983646 Oct 16, 2022 (156)
57 EVA ss5840855162 Oct 16, 2022 (156)
58 EVA ss5840855163 Oct 16, 2022 (156)
59 EVA ss5840855164 Oct 16, 2022 (156)
60 EVA ss5900618595 Oct 16, 2022 (156)
61 1000Genomes NC_000014.8 - 27011940 Oct 12, 2018 (152)
62 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 35125000 (NC_000014.8:27011940:A: 1045/3854)
Row 35125001 (NC_000014.8:27011939:AAA: 181/3854)

- Oct 12, 2018 (152)
63 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 35125000 (NC_000014.8:27011940:A: 1045/3854)
Row 35125001 (NC_000014.8:27011939:AAA: 181/3854)

- Oct 12, 2018 (152)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

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

Submission ignored due to conflicting rows:
Row 445898832 (NC_000014.9:26542733::A 647/115696)
Row 445898833 (NC_000014.9:26542733::AA 304/115696)
Row 445898834 (NC_000014.9:26542733::AAA 7/115702)...

- Apr 26, 2021 (155)
76 Northern Sweden

Submission ignored due to conflicting rows:
Row 13505399 (NC_000014.8:27011939:A: 231/430)
Row 13505400 (NC_000014.8:27011939::AAAAAAAAAAAAAAAAAATAAAAAAAA 3/430)
Row 13505401 (NC_000014.8:27011939:AA: 12/430)

- Jul 13, 2019 (153)
77 Northern Sweden

Submission ignored due to conflicting rows:
Row 13505399 (NC_000014.8:27011939:A: 231/430)
Row 13505400 (NC_000014.8:27011939::AAAAAAAAAAAAAAAAAATAAAAAAAA 3/430)
Row 13505401 (NC_000014.8:27011939:AA: 12/430)

- Jul 13, 2019 (153)
78 Northern Sweden

Submission ignored due to conflicting rows:
Row 13505399 (NC_000014.8:27011939:A: 231/430)
Row 13505400 (NC_000014.8:27011939::AAAAAAAAAAAAAAAAAATAAAAAAAA 3/430)
Row 13505401 (NC_000014.8:27011939:AA: 12/430)

- Jul 13, 2019 (153)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 70384724 (NC_000014.8:27011939:AA: 1353/16756)
Row 70384725 (NC_000014.8:27011939:A: 14939/16756)

- Apr 26, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 70384724 (NC_000014.8:27011939:AA: 1353/16756)
Row 70384725 (NC_000014.8:27011939:A: 14939/16756)

- Apr 26, 2021 (155)
81 14KJPN

Submission ignored due to conflicting rows:
Row 98820747 (NC_000014.9:26542733:AA: 2320/28254)
Row 98820748 (NC_000014.9:26542733:A: 25386/28254)
Row 98820749 (NC_000014.9:26542733:AAA: 3/28254)...

- Oct 16, 2022 (156)
82 14KJPN

Submission ignored due to conflicting rows:
Row 98820747 (NC_000014.9:26542733:AA: 2320/28254)
Row 98820748 (NC_000014.9:26542733:A: 25386/28254)
Row 98820749 (NC_000014.9:26542733:AAA: 3/28254)...

- Oct 16, 2022 (156)
83 14KJPN

Submission ignored due to conflicting rows:
Row 98820747 (NC_000014.9:26542733:AA: 2320/28254)
Row 98820748 (NC_000014.9:26542733:A: 25386/28254)
Row 98820749 (NC_000014.9:26542733:AAA: 3/28254)...

- Oct 16, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 98820747 (NC_000014.9:26542733:AA: 2320/28254)
Row 98820748 (NC_000014.9:26542733:A: 25386/28254)
Row 98820749 (NC_000014.9:26542733:AAA: 3/28254)...

- Oct 16, 2022 (156)
85 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 35124999 (NC_000014.8:27011941:A: 2599/3708)
Row 35125000 (NC_000014.8:27011940:AA: 929/3708)
Row 35125001 (NC_000014.8:27011939:AAA: 179/3708)

- Apr 27, 2020 (154)
86 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 35125000 (NC_000014.8:27011940:A: 929/3708)
Row 35125001 (NC_000014.8:27011939:AAA: 179/3708)

- Oct 12, 2018 (152)
87 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 35125000 (NC_000014.8:27011940:A: 929/3708)
Row 35125001 (NC_000014.8:27011939:AAA: 179/3708)

- Oct 12, 2018 (152)
88 ALFA NC_000014.9 - 26542734 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)
rs141546101 May 11, 2012 (137)
rs375966414 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4274888037 NC_000014.9:26542733:AAAAAAA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4274888036 NC_000014.9:26542733:AAAAAA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
6280792799 NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4274888035 NC_000014.9:26542733:AAAAA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3696321760, ss4274888034 NC_000014.9:26542733:AAAA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
6280792799 NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss1707978275, ss1707992949, ss5840855164 NC_000014.8:27011939:AAA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4274888033, ss5295584355, ss5764983645 NC_000014.9:26542733:AAA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
6280792799 NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3696321759 NC_000014.9:26542734:AAA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3011905727, ss3740220536, ss5212415417, ss5840855163 NC_000014.8:27011939:AA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1710627502, ss1710627592 NC_000014.8:27011940:AA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4274888032, ss5295584352, ss5489704573, ss5764983643 NC_000014.9:26542733:AA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
6280792799 NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3696321758 NC_000014.9:26542735:AA: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss289210002, ss294824322 NC_000014.7:26081779:A: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
63233945, ss664216691, ss666619394, ss1373849170, ss3740220534, ss3787615514, ss3792662133, ss3797546216, ss5212415418, ss5840855162 NC_000014.8:27011939:A: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
NC_000014.8:27011940:A: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1710627500, ss1710627590 NC_000014.8:27011941:A: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3063786856, ss3064621036, ss3065547387, ss3645335438, ss3650165991, ss3817435903, ss4274888031, ss5295584351, ss5489704574, ss5764983644, ss5900618595 NC_000014.9:26542733:A: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
6280792799 NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3696321757 NC_000014.9:26542736:A: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss95635905 NT_026437.12:8011956:A: NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4274888026, ss5295584354, ss5489704575, ss5764983646 NC_000014.9:26542733::A NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
6280792799 NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3833824330 NC_000014.8:27011939::AA NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4274888027, ss5295584353 NC_000014.9:26542733::AA NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
6280792799 NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4274888028 NC_000014.9:26542733::AAA NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
6280792799 NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4274888029 NC_000014.9:26542733::AAAAAA NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4274888030 NC_000014.9:26542733::AAAAAAAAAAAA…

NC_000014.9:26542733::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3740220535 NC_000014.8:27011939::AAAAAAAAAAAA…

NC_000014.8:27011939::AAAAAAAAAAAAAAAAAATAAAAAAAA

NC_000014.9:26542733:AAAAAAAAAAAAA…

NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs71121888

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