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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.

rs1485398772

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:12531604 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000023 (6/264690, TOPMED)
T=0.000020 (5/251408, GnomAD_exome)
T=0.00009 (2/23038, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TSEN2 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 23038 C=0.99991 T=0.00009 0.999826 0.0 0.000174 0
European Sub 15752 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
African Sub 3492 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 122 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 3370 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 168 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Other Asian Sub 56 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=0.998 T=0.002 0.996721 0.0 0.003279 0
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 2772 C=0.9996 T=0.0004 0.999278 0.0 0.000722 0


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=0.999977 T=0.000023
gnomAD - Exomes Global Study-wide 251408 C=0.999980 T=0.000020
gnomAD - Exomes European Sub 135352 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 49006 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34580 C=0.99991 T=0.00009
gnomAD - Exomes African Sub 16256 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6136 C=0.9998 T=0.0002
Allele Frequency Aggregator Total Global 23038 C=0.99991 T=0.00009
Allele Frequency Aggregator European Sub 15752 C=1.00000 T=0.00000
Allele Frequency Aggregator African Sub 3492 C=1.0000 T=0.0000
Allele Frequency Aggregator Other Sub 2772 C=0.9996 T=0.0004
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.998 T=0.002
Allele Frequency Aggregator Asian Sub 168 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
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 3 NC_000003.12:g.12531604C>T
GRCh37.p13 chr 3 NC_000003.11:g.12573103C>T
TSEN2 RefSeqGene NG_011521.2:g.52173C>T
Gene: TSEN2, tRNA splicing endonuclease subunit 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TSEN2 transcript variant 1 NM_025265.4:c.1283C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform 1 NP_079541.1:p.Thr428Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant 7 NM_001321278.2:c.1283C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform 5 NP_001308207.1:p.Thr428Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant 4 NM_001145394.2:c.1106C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform 3 NP_001138866.1:p.Thr369Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant 2 NM_001145392.2:c.1283C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform 1 NP_001138864.1:p.Thr428Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant 6 NM_001321277.2:c.1283C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform 1 NP_001308206.1:p.Thr428Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant 3 NM_001145393.3:c.1205C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform 2 NP_001138865.1:p.Thr402Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant 8 NM_001321279.2:c.1205C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform 2 NP_001308208.1:p.Thr402Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant 9 NR_135607.2:n.1338C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X18 XM_047449031.1:c. N/A Genic Downstream Transcript Variant
TSEN2 transcript variant X24 XM_047449033.1:c. N/A Genic Downstream Transcript Variant
TSEN2 transcript variant X25 XM_047449034.1:c. N/A Genic Downstream Transcript Variant
TSEN2 transcript variant X1 XM_017007292.2:c.1340C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X1 XP_016862781.1:p.Thr447Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X2 XM_017007294.2:c.1340C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X1 XP_016862783.1:p.Thr447Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X5 XM_017007293.2:c.1340C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X1 XP_016862782.1:p.Thr447Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X6 XM_017007295.3:c.1340C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X1 XP_016862784.1:p.Thr447Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X8 XM_017007296.3:c.1283C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X2 XP_016862785.1:p.Thr428Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X9 XM_047449029.1:c.1283C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X2 XP_047304985.1:p.Thr428Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X16 XM_047449030.1:c.1262C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X3 XP_047304986.1:p.Thr421Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X19 XM_024453785.2:c.1205C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X5 XP_024309553.1:p.Thr402Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X20 XM_047449032.1:c.1205C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X5 XP_047304988.1:p.Thr402Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X27 XM_011534139.4:c.1010C>T T [ACT] > I [ATT] Coding Sequence Variant
tRNA-splicing endonuclease subunit Sen2 isoform X8 XP_011532441.1:p.Thr337Ile T (Thr) > I (Ile) Missense Variant
TSEN2 transcript variant X3 XR_007095736.1:n.1395C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X4 XR_002959592.2:n.1506C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X7 XR_007095737.1:n.1395C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X10 XR_007095738.1:n.1338C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X11 XR_001740289.3:n.1701C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X12 XR_002959593.2:n.1449C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X13 XR_007095739.1:n.1701C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X14 XR_007095740.1:n.2012C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X15 XR_007095741.1:n.2012C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X17 XR_007095742.1:n.1317C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X21 XR_001740290.3:n.1260C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X22 XR_001740291.2:n.1623C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X23 XR_007095743.1:n.1260C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X26 XR_007095744.1:n.1358C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X28 XR_007095745.1:n.1301C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X29 XR_007095746.1:n.1223C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X30 XR_007095747.1:n.1205C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X32 XR_007095749.1:n.1148C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X33 XR_007095750.1:n.1511C>T N/A Non Coding Transcript Variant
TSEN2 transcript variant X31 XR_007095748.1:n. N/A Genic Downstream Transcript Variant
TSEN2 transcript variant X34 XR_007095751.1:n. N/A Genic Downstream Transcript 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 C= T
GRCh38.p14 chr 3 NC_000003.12:g.12531604= NC_000003.12:g.12531604C>T
GRCh37.p13 chr 3 NC_000003.11:g.12573103= NC_000003.11:g.12573103C>T
TSEN2 RefSeqGene NG_011521.2:g.52173= NG_011521.2:g.52173C>T
TSEN2 transcript variant 1 NM_025265.4:c.1283= NM_025265.4:c.1283C>T
TSEN2 transcript variant 1 NM_025265.3:c.1283= NM_025265.3:c.1283C>T
TSEN2 transcript variant 3 NM_001145393.3:c.1205= NM_001145393.3:c.1205C>T
TSEN2 transcript variant 3 NM_001145393.2:c.1205= NM_001145393.2:c.1205C>T
TSEN2 transcript variant 3 NM_001145393.1:c.1205= NM_001145393.1:c.1205C>T
TSEN2 transcript variant 8 NM_001321279.2:c.1205= NM_001321279.2:c.1205C>T
TSEN2 transcript variant 8 NM_001321279.1:c.1205= NM_001321279.1:c.1205C>T
TSEN2 transcript variant 2 NM_001145392.2:c.1283= NM_001145392.2:c.1283C>T
TSEN2 transcript variant 2 NM_001145392.1:c.1283= NM_001145392.1:c.1283C>T
TSEN2 transcript variant 6 NM_001321277.2:c.1283= NM_001321277.2:c.1283C>T
TSEN2 transcript variant 6 NM_001321277.1:c.1283= NM_001321277.1:c.1283C>T
TSEN2 transcript variant 4 NM_001145394.2:c.1106= NM_001145394.2:c.1106C>T
TSEN2 transcript variant 4 NM_001145394.1:c.1106= NM_001145394.1:c.1106C>T
TSEN2 transcript variant 9 NR_135607.2:n.1338= NR_135607.2:n.1338C>T
TSEN2 transcript variant 9 NR_135607.1:n.1386= NR_135607.1:n.1386C>T
TSEN2 transcript variant 7 NM_001321278.2:c.1283= NM_001321278.2:c.1283C>T
TSEN2 transcript variant 7 NM_001321278.1:c.1283= NM_001321278.1:c.1283C>T
TSEN2 transcript variant X27 XM_011534139.4:c.1010= XM_011534139.4:c.1010C>T
TSEN2 transcript variant X18 XM_011534139.3:c.1010= XM_011534139.3:c.1010C>T
TSEN2 transcript variant X14 XM_011534139.2:c.1010= XM_011534139.2:c.1010C>T
TSEN2 transcript variant X8 XM_011534139.1:c.1010= XM_011534139.1:c.1010C>T
TSEN2 transcript variant X8 XM_017007296.3:c.1283= XM_017007296.3:c.1283C>T
TSEN2 transcript variant X8 XM_017007296.2:c.1283= XM_017007296.2:c.1283C>T
TSEN2 transcript variant X7 XM_017007296.1:c.1283= XM_017007296.1:c.1283C>T
TSEN2 transcript variant X6 XM_017007295.3:c.1340= XM_017007295.3:c.1340C>T
TSEN2 transcript variant X4 XM_017007295.2:c.1340= XM_017007295.2:c.1340C>T
TSEN2 transcript variant X4 XM_017007295.1:c.1340= XM_017007295.1:c.1340C>T
TSEN2 transcript variant X11 XR_001740289.3:n.1701= XR_001740289.3:n.1701C>T
TSEN2 transcript variant X9 XR_001740289.2:n.1670= XR_001740289.2:n.1670C>T
TSEN2 transcript variant X8 XR_001740289.1:n.1670= XR_001740289.1:n.1670C>T
TSEN2 transcript variant X21 XR_001740290.3:n.1260= XR_001740290.3:n.1260C>T
TSEN2 transcript variant X14 XR_001740290.2:n.1284= XR_001740290.2:n.1284C>T
TSEN2 transcript variant X10 XR_001740290.1:n.1308= XR_001740290.1:n.1308C>T
TSEN2 transcript variant X5 XM_017007293.2:c.1340= XM_017007293.2:c.1340C>T
TSEN2 transcript variant X2 XM_017007293.1:c.1340= XM_017007293.1:c.1340C>T
TSEN2 transcript variant X2 XM_017007294.2:c.1340= XM_017007294.2:c.1340C>T
TSEN2 transcript variant X3 XM_017007294.1:c.1340= XM_017007294.1:c.1340C>T
TSEN2 transcript variant X1 XM_017007292.2:c.1340= XM_017007292.2:c.1340C>T
TSEN2 transcript variant X1 XM_017007292.1:c.1340= XM_017007292.1:c.1340C>T
TSEN2 transcript variant X19 XM_024453785.2:c.1205= XM_024453785.2:c.1205C>T
TSEN2 transcript variant X13 XM_024453785.1:c.1205= XM_024453785.1:c.1205C>T
TSEN2 transcript variant X22 XR_001740291.2:n.1623= XR_001740291.2:n.1623C>T
TSEN2 transcript variant X15 XR_001740291.1:n.1592= XR_001740291.1:n.1592C>T
TSEN2 transcript variant X4 XR_002959592.2:n.1506= XR_002959592.2:n.1506C>T
TSEN2 transcript variant X7 XR_002959592.1:n.1461= XR_002959592.1:n.1461C>T
TSEN2 transcript variant X12 XR_002959593.2:n.1449= XR_002959593.2:n.1449C>T
TSEN2 transcript variant X10 XR_002959593.1:n.1418= XR_002959593.1:n.1418C>T
TSEN2 transcript variant X9 XM_047449029.1:c.1283= XM_047449029.1:c.1283C>T
TSEN2 transcript variant X15 XR_007095741.1:n.2012= XR_007095741.1:n.2012C>T
TSEN2 transcript variant X20 XM_047449032.1:c.1205= XM_047449032.1:c.1205C>T
TSEN2 transcript variant X13 XR_007095739.1:n.1701= XR_007095739.1:n.1701C>T
TSEN2 transcript variant X14 XR_007095740.1:n.2012= XR_007095740.1:n.2012C>T
TSEN2 transcript variant X7 XR_007095737.1:n.1395= XR_007095737.1:n.1395C>T
TSEN2 transcript variant X16 XM_047449030.1:c.1262= XM_047449030.1:c.1262C>T
TSEN2 transcript variant X10 XR_007095738.1:n.1338= XR_007095738.1:n.1338C>T
TSEN2 transcript variant X23 XR_007095743.1:n.1260= XR_007095743.1:n.1260C>T
TSEN2 transcript variant X3 XR_007095736.1:n.1395= XR_007095736.1:n.1395C>T
TSEN2 transcript variant X17 XR_007095742.1:n.1317= XR_007095742.1:n.1317C>T
TSEN2 transcript variant X33 XR_007095750.1:n.1511= XR_007095750.1:n.1511C>T
TSEN2 transcript variant X26 XR_007095744.1:n.1358= XR_007095744.1:n.1358C>T
TSEN2 transcript variant X28 XR_007095745.1:n.1301= XR_007095745.1:n.1301C>T
TSEN2 transcript variant X29 XR_007095746.1:n.1223= XR_007095746.1:n.1223C>T
TSEN2 transcript variant X30 XR_007095747.1:n.1205= XR_007095747.1:n.1205C>T
TSEN2 transcript variant X32 XR_007095749.1:n.1148= XR_007095749.1:n.1148C>T
tRNA-splicing endonuclease subunit Sen2 isoform 1 NP_079541.1:p.Thr428= NP_079541.1:p.Thr428Ile
tRNA-splicing endonuclease subunit Sen2 isoform 2 NP_001138865.1:p.Thr402= NP_001138865.1:p.Thr402Ile
tRNA-splicing endonuclease subunit Sen2 isoform 2 NP_001308208.1:p.Thr402= NP_001308208.1:p.Thr402Ile
tRNA-splicing endonuclease subunit Sen2 isoform 1 NP_001138864.1:p.Thr428= NP_001138864.1:p.Thr428Ile
tRNA-splicing endonuclease subunit Sen2 isoform 1 NP_001308206.1:p.Thr428= NP_001308206.1:p.Thr428Ile
tRNA-splicing endonuclease subunit Sen2 isoform 3 NP_001138866.1:p.Thr369= NP_001138866.1:p.Thr369Ile
tRNA-splicing endonuclease subunit Sen2 isoform 5 NP_001308207.1:p.Thr428= NP_001308207.1:p.Thr428Ile
tRNA-splicing endonuclease subunit Sen2 isoform X8 XP_011532441.1:p.Thr337= XP_011532441.1:p.Thr337Ile
tRNA-splicing endonuclease subunit Sen2 isoform X2 XP_016862785.1:p.Thr428= XP_016862785.1:p.Thr428Ile
tRNA-splicing endonuclease subunit Sen2 isoform X1 XP_016862784.1:p.Thr447= XP_016862784.1:p.Thr447Ile
tRNA-splicing endonuclease subunit Sen2 isoform X1 XP_016862782.1:p.Thr447= XP_016862782.1:p.Thr447Ile
tRNA-splicing endonuclease subunit Sen2 isoform X1 XP_016862783.1:p.Thr447= XP_016862783.1:p.Thr447Ile
tRNA-splicing endonuclease subunit Sen2 isoform X1 XP_016862781.1:p.Thr447= XP_016862781.1:p.Thr447Ile
tRNA-splicing endonuclease subunit Sen2 isoform X5 XP_024309553.1:p.Thr402= XP_024309553.1:p.Thr402Ile
tRNA-splicing endonuclease subunit Sen2 isoform X2 XP_047304985.1:p.Thr428= XP_047304985.1:p.Thr428Ile
tRNA-splicing endonuclease subunit Sen2 isoform X5 XP_047304988.1:p.Thr402= XP_047304988.1:p.Thr402Ile
tRNA-splicing endonuclease subunit Sen2 isoform X3 XP_047304986.1:p.Thr421= XP_047304986.1:p.Thr421Ile
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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2733548563 Nov 08, 2017 (151)
2 TOPMED ss4554509202 Apr 27, 2021 (155)
3 gnomAD - Exomes NC_000003.11 - 12573103 Jul 13, 2019 (153)
4 TopMed NC_000003.12 - 12531604 Apr 27, 2021 (155)
5 ALFA NC_000003.12 - 12531604 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2620462, ss2733548563 NC_000003.11:12573102:C:T NC_000003.12:12531603:C:T (self)
391886757, 3783724368, ss4554509202 NC_000003.12:12531603:C:T NC_000003.12:12531603:C:T (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 rs1485398772

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
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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.post820+afb47a3d