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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs367771169

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:2543211 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000011 (3/264690, TOPMED)
G=0.00003 (1/35142, ALFA)
T=0.00008 (1/13006, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRAT1 : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 51504 C=0.99996 G=0.00002, T=0.00002
European Sub 36436 C=0.99997 G=0.00003, T=0.00000
African Sub 7756 C=0.9999 G=0.0000, T=0.0001
African Others Sub 298 C=1.000 G=0.000, T=0.000
African American Sub 7458 C=0.9999 G=0.0000, T=0.0001
Asian Sub 112 C=1.000 G=0.000, T=0.000
East Asian Sub 86 C=1.00 G=0.00, T=0.00
Other Asian Sub 26 C=1.00 G=0.00, T=0.00
Latin American 1 Sub 500 C=1.000 G=0.000, T=0.000
Latin American 2 Sub 628 C=1.000 G=0.000, T=0.000
South Asian Sub 98 C=1.00 G=0.00, T=0.00
Other Sub 5974 C=1.0000 G=0.0000, T=0.0000


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
TopMed Global Study-wide 264690 C=0.999989 T=0.000011
Allele Frequency Aggregator Total Global 35142 C=0.99997 G=0.00003, T=0.00000
Allele Frequency Aggregator European Sub 26346 C=0.99996 G=0.00004, T=0.00000
Allele Frequency Aggregator Other Sub 4540 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2918 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00, T=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4406 C=1.0000 T=0.0000
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 7 NC_000007.14:g.2543211C>G
GRCh38.p14 chr 7 NC_000007.14:g.2543211C>T
GRCh37.p13 chr 7 NC_000007.13:g.2582845C>G
GRCh37.p13 chr 7 NC_000007.13:g.2582845C>T
BRAT1 RefSeqGene NG_032167.1:g.17548G>C
BRAT1 RefSeqGene NG_032167.1:g.17548G>A
Gene: BRAT1, BRCA1 associated ATM activator 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRAT1 transcript variant 2 NM_152743.4:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform 2 NP_689956.2:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant 2 NM_152743.4:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform 2 NP_689956.2:p.Glu306Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant 1 NM_001350626.2:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform 1 NP_001337555.1:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant 1 NM_001350626.2:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform 1 NP_001337555.1:p.Glu306Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant 3 NM_001350627.2:c.391G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform 3 NP_001337556.1:p.Glu131Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant 3 NM_001350627.2:c.391G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform 3 NP_001337556.1:p.Glu131Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant 4 NR_146879.2:n.975G>C N/A Non Coding Transcript Variant
BRAT1 transcript variant 4 NR_146879.2:n.975G>A N/A Non Coding Transcript Variant
BRAT1 transcript variant X17 XM_024446682.2:c. N/A Genic Upstream Transcript Variant
BRAT1 transcript variant X1 XM_011515177.3:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X1 XP_011513479.1:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X1 XM_011515177.3:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X1 XP_011513479.1:p.Glu306Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X2 XM_011515178.2:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X1 XP_011513480.1:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X2 XM_011515178.2:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X1 XP_011513480.1:p.Glu306Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X3 XM_011515179.3:c.913G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X2 XP_011513481.1:p.Glu305Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X3 XM_011515179.3:c.913G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X2 XP_011513481.1:p.Glu305Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X4 XM_047420028.1:c.913G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X3 XP_047275984.1:p.Glu305Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X4 XM_047420028.1:c.913G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X3 XP_047275984.1:p.Glu305Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X5 XM_011515181.3:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X4 XP_011513483.1:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X5 XM_011515181.3:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X4 XP_011513483.1:p.Glu306Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X6 XM_017011834.2:c.913G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X5 XP_016867323.1:p.Glu305Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X6 XM_017011834.2:c.913G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X5 XP_016867323.1:p.Glu305Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X7 XM_011515184.4:c.391G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X6 XP_011513486.1:p.Glu131Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X7 XM_011515184.4:c.391G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X6 XP_011513486.1:p.Glu131Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X8 XM_047420030.1:c.391G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X6 XP_047275986.1:p.Glu131Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X8 XM_047420030.1:c.391G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X6 XP_047275986.1:p.Glu131Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X9 XM_047420031.1:c.391G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X7 XP_047275987.1:p.Glu131Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X9 XM_047420031.1:c.391G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X7 XP_047275987.1:p.Glu131Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X10 XM_011515186.3:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X8 XP_011513488.1:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X10 XM_011515186.3:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X8 XP_011513488.1:p.Glu306Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X11 XM_047420032.1:c.913G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X9 XP_047275988.1:p.Glu305Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X11 XM_047420032.1:c.913G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X9 XP_047275988.1:p.Glu305Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X12 XM_017011836.3:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X10 XP_016867325.1:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X12 XM_017011836.3:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X10 XP_016867325.1:p.Glu306Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X13 XM_047420033.1:c.913G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X11 XP_047275989.1:p.Glu305Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X13 XM_047420033.1:c.913G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X11 XP_047275989.1:p.Glu305Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X14 XM_047420034.1:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X12 XP_047275990.1:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X14 XM_047420034.1:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X12 XP_047275990.1:p.Glu306Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X15 XM_047420035.1:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X13 XP_047275991.1:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X15 XM_047420035.1:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X13 XP_047275991.1:p.Glu306Lys E (Glu) > K (Lys) Missense Variant
BRAT1 transcript variant X16 XM_047420036.1:c.916G>C E [GAG] > Q [CAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X14 XP_047275992.1:p.Glu306Gln E (Glu) > Q (Gln) Missense Variant
BRAT1 transcript variant X16 XM_047420036.1:c.916G>A E [GAG] > K [AAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X14 XP_047275992.1:p.Glu306Lys E (Glu) > K (Lys) Missense 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.

Allele: T (allele ID: 561536 )
ClinVar Accession Disease Names Clinical Significance
RCV000695624.4 Neonatal-onset encephalopathy with rigidity and seizures Uncertain-Significance
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 C= G T
GRCh38.p14 chr 7 NC_000007.14:g.2543211= NC_000007.14:g.2543211C>G NC_000007.14:g.2543211C>T
GRCh37.p13 chr 7 NC_000007.13:g.2582845= NC_000007.13:g.2582845C>G NC_000007.13:g.2582845C>T
BRAT1 RefSeqGene NG_032167.1:g.17548= NG_032167.1:g.17548G>C NG_032167.1:g.17548G>A
BRAT1 transcript variant 2 NM_152743.4:c.916= NM_152743.4:c.916G>C NM_152743.4:c.916G>A
BRAT1 transcript variant 2 NM_152743.3:c.916= NM_152743.3:c.916G>C NM_152743.3:c.916G>A
BRAT1 transcript variant 1 NM_001350626.2:c.916= NM_001350626.2:c.916G>C NM_001350626.2:c.916G>A
BRAT1 transcript variant 1 NM_001350626.1:c.916= NM_001350626.1:c.916G>C NM_001350626.1:c.916G>A
BRAT1 transcript variant 4 NR_146879.2:n.975= NR_146879.2:n.975G>C NR_146879.2:n.975G>A
BRAT1 transcript variant 4 NR_146879.1:n.1209= NR_146879.1:n.1209G>C NR_146879.1:n.1209G>A
BRAT1 transcript variant 3 NM_001350627.2:c.391= NM_001350627.2:c.391G>C NM_001350627.2:c.391G>A
BRAT1 transcript variant 3 NM_001350627.1:c.391= NM_001350627.1:c.391G>C NM_001350627.1:c.391G>A
BRAT1 transcript variant X7 XM_011515184.4:c.391= XM_011515184.4:c.391G>C XM_011515184.4:c.391G>A
BRAT1 transcript variant X8 XM_011515184.3:c.391= XM_011515184.3:c.391G>C XM_011515184.3:c.391G>A
BRAT1 transcript variant X9 XM_011515184.2:c.391= XM_011515184.2:c.391G>C XM_011515184.2:c.391G>A
BRAT1 transcript variant X9 XM_011515184.1:c.391= XM_011515184.1:c.391G>C XM_011515184.1:c.391G>A
BRAT1 transcript variant X1 XM_011515177.3:c.916= XM_011515177.3:c.916G>C XM_011515177.3:c.916G>A
BRAT1 transcript variant X7 XM_011515177.2:c.916= XM_011515177.2:c.916G>C XM_011515177.2:c.916G>A
BRAT1 transcript variant X1 XM_011515177.1:c.916= XM_011515177.1:c.916G>C XM_011515177.1:c.916G>A
BRAT1 transcript variant X3 XM_011515179.3:c.913= XM_011515179.3:c.913G>C XM_011515179.3:c.913G>A
BRAT1 transcript variant X3 XM_011515179.2:c.913= XM_011515179.2:c.913G>C XM_011515179.2:c.913G>A
BRAT1 transcript variant X3 XM_011515179.1:c.913= XM_011515179.1:c.913G>C XM_011515179.1:c.913G>A
BRAT1 transcript variant X5 XM_011515181.3:c.916= XM_011515181.3:c.916G>C XM_011515181.3:c.916G>A
BRAT1 transcript variant X5 XM_011515181.2:c.916= XM_011515181.2:c.916G>C XM_011515181.2:c.916G>A
BRAT1 transcript variant X6 XM_011515181.1:c.916= XM_011515181.1:c.916G>C XM_011515181.1:c.916G>A
BRAT1 transcript variant X10 XM_011515186.3:c.916= XM_011515186.3:c.916G>C XM_011515186.3:c.916G>A
BRAT1 transcript variant X10 XM_011515186.2:c.916= XM_011515186.2:c.916G>C XM_011515186.2:c.916G>A
BRAT1 transcript variant X11 XM_011515186.1:c.916= XM_011515186.1:c.916G>C XM_011515186.1:c.916G>A
BRAT1 transcript variant X12 XM_017011836.3:c.916= XM_017011836.3:c.916G>C XM_017011836.3:c.916G>A
BRAT1 transcript variant X11 XM_017011836.2:c.916= XM_017011836.2:c.916G>C XM_017011836.2:c.916G>A
BRAT1 transcript variant X13 XM_017011836.1:c.916= XM_017011836.1:c.916G>C XM_017011836.1:c.916G>A
BRAT1 transcript variant X2 XM_011515178.2:c.916= XM_011515178.2:c.916G>C XM_011515178.2:c.916G>A
BRAT1 transcript variant X1 XM_011515178.1:c.916= XM_011515178.1:c.916G>C XM_011515178.1:c.916G>A
BRAT1 transcript variant X6 XM_017011834.2:c.913= XM_017011834.2:c.913G>C XM_017011834.2:c.913G>A
BRAT1 transcript variant X6 XM_017011834.1:c.913= XM_017011834.1:c.913G>C XM_017011834.1:c.913G>A
BRAT1 transcript variant X4 XM_047420028.1:c.913= XM_047420028.1:c.913G>C XM_047420028.1:c.913G>A
BRAT1 transcript variant X8 XM_047420030.1:c.391= XM_047420030.1:c.391G>C XM_047420030.1:c.391G>A
BRAT1 transcript variant X11 XM_047420032.1:c.913= XM_047420032.1:c.913G>C XM_047420032.1:c.913G>A
BRAT1 transcript variant X9 XM_047420031.1:c.391= XM_047420031.1:c.391G>C XM_047420031.1:c.391G>A
BRAT1 transcript variant X13 XM_047420033.1:c.913= XM_047420033.1:c.913G>C XM_047420033.1:c.913G>A
BRAT1 transcript variant X14 XM_047420034.1:c.916= XM_047420034.1:c.916G>C XM_047420034.1:c.916G>A
BRAT1 transcript variant X15 XM_047420035.1:c.916= XM_047420035.1:c.916G>C XM_047420035.1:c.916G>A
BRAT1 transcript variant X16 XM_047420036.1:c.916= XM_047420036.1:c.916G>C XM_047420036.1:c.916G>A
BRCA1-associated ATM activator 1 isoform 2 NP_689956.2:p.Glu306= NP_689956.2:p.Glu306Gln NP_689956.2:p.Glu306Lys
BRCA1-associated ATM activator 1 isoform 1 NP_001337555.1:p.Glu306= NP_001337555.1:p.Glu306Gln NP_001337555.1:p.Glu306Lys
BRCA1-associated ATM activator 1 isoform 3 NP_001337556.1:p.Glu131= NP_001337556.1:p.Glu131Gln NP_001337556.1:p.Glu131Lys
BRCA1-associated ATM activator 1 isoform X6 XP_011513486.1:p.Glu131= XP_011513486.1:p.Glu131Gln XP_011513486.1:p.Glu131Lys
BRCA1-associated ATM activator 1 isoform X1 XP_011513479.1:p.Glu306= XP_011513479.1:p.Glu306Gln XP_011513479.1:p.Glu306Lys
BRCA1-associated ATM activator 1 isoform X2 XP_011513481.1:p.Glu305= XP_011513481.1:p.Glu305Gln XP_011513481.1:p.Glu305Lys
BRCA1-associated ATM activator 1 isoform X4 XP_011513483.1:p.Glu306= XP_011513483.1:p.Glu306Gln XP_011513483.1:p.Glu306Lys
BRCA1-associated ATM activator 1 isoform X8 XP_011513488.1:p.Glu306= XP_011513488.1:p.Glu306Gln XP_011513488.1:p.Glu306Lys
BRCA1-associated ATM activator 1 isoform X10 XP_016867325.1:p.Glu306= XP_016867325.1:p.Glu306Gln XP_016867325.1:p.Glu306Lys
BRCA1-associated ATM activator 1 isoform X1 XP_011513480.1:p.Glu306= XP_011513480.1:p.Glu306Gln XP_011513480.1:p.Glu306Lys
BRCA1-associated ATM activator 1 isoform X5 XP_016867323.1:p.Glu305= XP_016867323.1:p.Glu305Gln XP_016867323.1:p.Glu305Lys
BRCA1-associated ATM activator 1 isoform X3 XP_047275984.1:p.Glu305= XP_047275984.1:p.Glu305Gln XP_047275984.1:p.Glu305Lys
BRCA1-associated ATM activator 1 isoform X6 XP_047275986.1:p.Glu131= XP_047275986.1:p.Glu131Gln XP_047275986.1:p.Glu131Lys
BRCA1-associated ATM activator 1 isoform X9 XP_047275988.1:p.Glu305= XP_047275988.1:p.Glu305Gln XP_047275988.1:p.Glu305Lys
BRCA1-associated ATM activator 1 isoform X7 XP_047275987.1:p.Glu131= XP_047275987.1:p.Glu131Gln XP_047275987.1:p.Glu131Lys
BRCA1-associated ATM activator 1 isoform X11 XP_047275989.1:p.Glu305= XP_047275989.1:p.Glu305Gln XP_047275989.1:p.Glu305Lys
BRCA1-associated ATM activator 1 isoform X12 XP_047275990.1:p.Glu306= XP_047275990.1:p.Glu306Gln XP_047275990.1:p.Glu306Lys
BRCA1-associated ATM activator 1 isoform X13 XP_047275991.1:p.Glu306= XP_047275991.1:p.Glu306Gln XP_047275991.1:p.Glu306Lys
BRCA1-associated ATM activator 1 isoform X14 XP_047275992.1:p.Glu306= XP_047275992.1:p.Glu306Gln XP_047275992.1:p.Glu306Lys
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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#.

5 SubSNP, 3 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712755037 Apr 25, 2013 (138)
2 HUMAN_LONGEVITY ss2291054853 Dec 20, 2016 (150)
3 GNOMAD ss2736246357 Nov 08, 2017 (151)
4 EVA ss3824250716 Apr 26, 2020 (154)
5 TOPMED ss4732630912 Apr 26, 2021 (155)
6 GO Exome Sequencing Project NC_000007.13 - 2582845 Oct 12, 2018 (152)
7 TopMed NC_000007.14 - 2543211 Apr 26, 2021 (155)
8 ALFA NC_000007.14 - 2543211 Apr 26, 2021 (155)
9 ClinVar RCV000695624.4 Oct 14, 2022 (156)
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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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
7886976489 NC_000007.14:2543210:C:G NC_000007.14:2543210:C:G (self)
708698, ss712755037, ss2736246357, ss3824250716 NC_000007.13:2582844:C:T NC_000007.14:2543210:C:T (self)
RCV000695624.4, 570008471, 7886976489, ss2291054853, ss4732630912 NC_000007.14:2543210:C:T NC_000007.14:2543210:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs367771169

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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
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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.post761+d5e8e07