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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.

rs749881547

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:2539837 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/238266, GnomAD_exome)
C=0.00001 (1/73310, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BRAT1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 238266 T=0.999996 C=0.000004
gnomAD - Exomes European Sub 127176 T=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 47162 T=0.99998 C=0.00002
gnomAD - Exomes American Sub 33316 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 15212 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9622 T=1.0000 C=0.0000
gnomAD - Exomes Other Sub 5778 T=1.0000 C=0.0000
ExAC Global Study-wide 73310 T=0.99999 C=0.00001
ExAC Europe Sub 44256 T=1.00000 C=0.00000
ExAC Asian Sub 15562 T=0.99994 C=0.00006
ExAC African Sub 6692 T=1.0000 C=0.0000
ExAC American Sub 6256 T=1.0000 C=0.0000
ExAC Other Sub 544 T=1.000 C=0.000
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.2539837T>C
GRCh37.p13 chr 7 NC_000007.13:g.2579471T>C
BRAT1 RefSeqGene NG_032167.1:g.20922A>G
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.1447A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform 2 NP_689956.2:p.Lys483Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant 1 NM_001350626.2:c.1447A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform 1 NP_001337555.1:p.Lys483Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant 3 NM_001350627.2:c.922A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform 3 NP_001337556.1:p.Lys308Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant 4 NR_146879.2:n.1630A>G N/A Non Coding Transcript Variant
BRAT1 transcript variant X15 XM_047420035.1:c.*45= N/A 3 Prime UTR Variant
BRAT1 transcript variant X1 XM_011515177.3:c.1531A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X1 XP_011513479.1:p.Lys511Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X2 XM_011515178.2:c.1531A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X1 XP_011513480.1:p.Lys511Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X3 XM_011515179.3:c.1528A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X2 XP_011513481.1:p.Lys510Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X4 XM_047420028.1:c.1444A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X3 XP_047275984.1:p.Lys482Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X5 XM_011515181.3:c.1531A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X4 XP_011513483.1:p.Lys511Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X6 XM_017011834.2:c.1444A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X5 XP_016867323.1:p.Lys482Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X7 XM_011515184.4:c.1006A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X6 XP_011513486.1:p.Lys336Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X8 XM_047420030.1:c.1006A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X6 XP_047275986.1:p.Lys336Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X9 XM_047420031.1:c.922A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X7 XP_047275987.1:p.Lys308Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X10 XM_011515186.3:c.1531A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X8 XP_011513488.1:p.Lys511Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X11 XM_047420032.1:c.1528A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X9 XP_047275988.1:p.Lys510Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X12 XM_017011836.3:c.1447A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X10 XP_016867325.1:p.Lys483Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X13 XM_047420033.1:c.1444A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X11 XP_047275989.1:p.Lys482Glu K (Lys) > E (Glu) Missense Variant
BRAT1 transcript variant X14 XM_047420034.1:c.1571A>G Q [CAA] > R [CGA] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X12 XP_047275990.1:p.Gln524Arg Q (Gln) > R (Arg) Missense Variant
BRAT1 transcript variant X16 XM_047420036.1:c.1466A>G Q [CAA] > R [CGA] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X14 XP_047275992.1:p.Gln489Arg Q (Gln) > R (Arg) Missense Variant
BRAT1 transcript variant X17 XM_024446682.2:c.103A>G K [AAG] > E [GAG] Coding Sequence Variant
BRCA1-associated ATM activator 1 isoform X15 XP_024302450.1:p.Lys35Glu K (Lys) > E (Glu) 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.

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= C
GRCh38.p14 chr 7 NC_000007.14:g.2539837= NC_000007.14:g.2539837T>C
GRCh37.p13 chr 7 NC_000007.13:g.2579471= NC_000007.13:g.2579471T>C
BRAT1 RefSeqGene NG_032167.1:g.20922= NG_032167.1:g.20922A>G
BRAT1 transcript variant 2 NM_152743.4:c.1447= NM_152743.4:c.1447A>G
BRAT1 transcript variant 2 NM_152743.3:c.1447= NM_152743.3:c.1447A>G
BRAT1 transcript variant 1 NM_001350626.2:c.1447= NM_001350626.2:c.1447A>G
BRAT1 transcript variant 1 NM_001350626.1:c.1447= NM_001350626.1:c.1447A>G
BRAT1 transcript variant 4 NR_146879.2:n.1630= NR_146879.2:n.1630A>G
BRAT1 transcript variant 4 NR_146879.1:n.1864= NR_146879.1:n.1864A>G
BRAT1 transcript variant 3 NM_001350627.2:c.922= NM_001350627.2:c.922A>G
BRAT1 transcript variant 3 NM_001350627.1:c.922= NM_001350627.1:c.922A>G
BRAT1 transcript variant X7 XM_011515184.4:c.1006= XM_011515184.4:c.1006A>G
BRAT1 transcript variant X8 XM_011515184.3:c.1006= XM_011515184.3:c.1006A>G
BRAT1 transcript variant X9 XM_011515184.2:c.1006= XM_011515184.2:c.1006A>G
BRAT1 transcript variant X9 XM_011515184.1:c.1006= XM_011515184.1:c.1006A>G
BRAT1 transcript variant X1 XM_011515177.3:c.1531= XM_011515177.3:c.1531A>G
BRAT1 transcript variant X7 XM_011515177.2:c.1531= XM_011515177.2:c.1531A>G
BRAT1 transcript variant X1 XM_011515177.1:c.1531= XM_011515177.1:c.1531A>G
BRAT1 transcript variant X3 XM_011515179.3:c.1528= XM_011515179.3:c.1528A>G
BRAT1 transcript variant X3 XM_011515179.2:c.1528= XM_011515179.2:c.1528A>G
BRAT1 transcript variant X3 XM_011515179.1:c.1528= XM_011515179.1:c.1528A>G
BRAT1 transcript variant X5 XM_011515181.3:c.1531= XM_011515181.3:c.1531A>G
BRAT1 transcript variant X5 XM_011515181.2:c.1531= XM_011515181.2:c.1531A>G
BRAT1 transcript variant X6 XM_011515181.1:c.1531= XM_011515181.1:c.1531A>G
BRAT1 transcript variant X10 XM_011515186.3:c.1531= XM_011515186.3:c.1531A>G
BRAT1 transcript variant X10 XM_011515186.2:c.1531= XM_011515186.2:c.1531A>G
BRAT1 transcript variant X11 XM_011515186.1:c.1531= XM_011515186.1:c.1531A>G
BRAT1 transcript variant X12 XM_017011836.3:c.1447= XM_017011836.3:c.1447A>G
BRAT1 transcript variant X11 XM_017011836.2:c.1447= XM_017011836.2:c.1447A>G
BRAT1 transcript variant X13 XM_017011836.1:c.1447= XM_017011836.1:c.1447A>G
BRAT1 transcript variant X2 XM_011515178.2:c.1531= XM_011515178.2:c.1531A>G
BRAT1 transcript variant X1 XM_011515178.1:c.1531= XM_011515178.1:c.1531A>G
BRAT1 transcript variant X6 XM_017011834.2:c.1444= XM_017011834.2:c.1444A>G
BRAT1 transcript variant X6 XM_017011834.1:c.1444= XM_017011834.1:c.1444A>G
BRAT1 transcript variant X17 XM_024446682.2:c.103= XM_024446682.2:c.103A>G
BRAT1 transcript variant X12 XM_024446682.1:c.103= XM_024446682.1:c.103A>G
BRAT1 transcript variant X4 XM_047420028.1:c.1444= XM_047420028.1:c.1444A>G
BRAT1 transcript variant X8 XM_047420030.1:c.1006= XM_047420030.1:c.1006A>G
BRAT1 transcript variant X11 XM_047420032.1:c.1528= XM_047420032.1:c.1528A>G
BRAT1 transcript variant X9 XM_047420031.1:c.922= XM_047420031.1:c.922A>G
BRAT1 transcript variant X13 XM_047420033.1:c.1444= XM_047420033.1:c.1444A>G
BRAT1 transcript variant X14 XM_047420034.1:c.1571= XM_047420034.1:c.1571A>G
BRAT1 transcript variant X15 XM_047420035.1:c.*45= XM_047420035.1:c.*45A>G
BRAT1 transcript variant X16 XM_047420036.1:c.1466= XM_047420036.1:c.1466A>G
BRCA1-associated ATM activator 1 isoform 2 NP_689956.2:p.Lys483= NP_689956.2:p.Lys483Glu
BRCA1-associated ATM activator 1 isoform 1 NP_001337555.1:p.Lys483= NP_001337555.1:p.Lys483Glu
BRCA1-associated ATM activator 1 isoform 3 NP_001337556.1:p.Lys308= NP_001337556.1:p.Lys308Glu
BRCA1-associated ATM activator 1 isoform X6 XP_011513486.1:p.Lys336= XP_011513486.1:p.Lys336Glu
BRCA1-associated ATM activator 1 isoform X1 XP_011513479.1:p.Lys511= XP_011513479.1:p.Lys511Glu
BRCA1-associated ATM activator 1 isoform X2 XP_011513481.1:p.Lys510= XP_011513481.1:p.Lys510Glu
BRCA1-associated ATM activator 1 isoform X4 XP_011513483.1:p.Lys511= XP_011513483.1:p.Lys511Glu
BRCA1-associated ATM activator 1 isoform X8 XP_011513488.1:p.Lys511= XP_011513488.1:p.Lys511Glu
BRCA1-associated ATM activator 1 isoform X10 XP_016867325.1:p.Lys483= XP_016867325.1:p.Lys483Glu
BRCA1-associated ATM activator 1 isoform X1 XP_011513480.1:p.Lys511= XP_011513480.1:p.Lys511Glu
BRCA1-associated ATM activator 1 isoform X5 XP_016867323.1:p.Lys482= XP_016867323.1:p.Lys482Glu
BRCA1-associated ATM activator 1 isoform X15 XP_024302450.1:p.Lys35= XP_024302450.1:p.Lys35Glu
BRCA1-associated ATM activator 1 isoform X3 XP_047275984.1:p.Lys482= XP_047275984.1:p.Lys482Glu
BRCA1-associated ATM activator 1 isoform X6 XP_047275986.1:p.Lys336= XP_047275986.1:p.Lys336Glu
BRCA1-associated ATM activator 1 isoform X9 XP_047275988.1:p.Lys510= XP_047275988.1:p.Lys510Glu
BRCA1-associated ATM activator 1 isoform X7 XP_047275987.1:p.Lys308= XP_047275987.1:p.Lys308Glu
BRCA1-associated ATM activator 1 isoform X11 XP_047275989.1:p.Lys482= XP_047275989.1:p.Lys482Glu
BRCA1-associated ATM activator 1 isoform X12 XP_047275990.1:p.Gln524= XP_047275990.1:p.Gln524Arg
BRCA1-associated ATM activator 1 isoform X14 XP_047275992.1:p.Gln489= XP_047275992.1:p.Gln489Arg
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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1688615810 Apr 01, 2015 (144)
2 GNOMAD ss2736245965 Nov 08, 2017 (151)
3 ExAC NC_000007.13 - 2579471 Oct 12, 2018 (152)
4 gnomAD - Exomes NC_000007.13 - 2579471 Jul 13, 2019 (153)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
8672167, 5402979, ss1688615810, ss2736245965 NC_000007.13:2579470:T:C NC_000007.14:2539836:T:C (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 rs749881547

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.post761+d5e8e07