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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.

rs1481132312

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:101579696 (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
G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000012 (3/251090, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
POLL : Synonymous 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 251090 G=0.999988 T=0.000012
gnomAD - Exomes European Sub 135066 G=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 49000 G=0.99996 T=0.00004
gnomAD - Exomes American Sub 34574 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 16248 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10070 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6132 G=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 10 NC_000010.11:g.101579696G>T
GRCh37.p13 chr 10 NC_000010.10:g.103339453G>T
POLL RefSeqGene NG_017063.1:g.13575C>A
Gene: POLL, DNA polymerase lambda (minus strand)
Molecule type Change Amino acid[Codon] SO Term
POLL transcript variant 1 NM_001174084.2:c.1485C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform a NP_001167555.1:p.Pro495= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant 5 NM_001308382.2:c.660C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform c NP_001295311.1:p.Pro220= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant 3 NM_001174085.2:c.1209C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform b NP_001167556.1:p.Pro403= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant 2 NM_013274.4:c.1485C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform a NP_037406.1:p.Pro495= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant 4 NR_033406.1:n.1516C>A N/A Non Coding Transcript Variant
POLL transcript variant X14 XM_017016088.3:c.*98= N/A 3 Prime UTR Variant
POLL transcript variant X16 XM_017016090.2:c.*98= N/A 3 Prime UTR Variant
POLL transcript variant X24 XM_047425096.1:c. N/A Genic Downstream Transcript Variant
POLL transcript variant X25 XM_047425097.1:c. N/A Genic Downstream Transcript Variant
POLL transcript variant X1 XM_011539650.2:c.1506C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X1 XP_011537952.1:p.Pro502= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X2 XM_011539651.2:c.1485C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X2 XP_011537953.1:p.Pro495= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X3 XM_011539654.2:c.1230C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X3 XP_011537956.1:p.Pro410= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X4 XM_011539655.2:c.1209C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X4 XP_011537957.1:p.Pro403= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X5 XM_017016084.2:c.1203C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X5 XP_016871573.1:p.Pro401= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X6 XM_011539656.2:c.1188C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X6 XP_011537958.1:p.Pro396= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X7 XM_017016085.2:c.1182C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X7 XP_016871574.1:p.Pro394= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X8 XM_047425086.1:c.1167C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X8 XP_047281042.1:p.Pro389= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X9 XM_024447942.2:c.1242C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X9 XP_024303710.1:p.Pro414= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X10 XM_047425087.1:c.1242C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X9 XP_047281043.1:p.Pro414= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X11 XM_011539657.2:c.1242C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X9 XP_011537959.1:p.Pro414= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X12 XM_024447943.2:c.1221C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X10 XP_024303711.1:p.Pro407= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X13 XM_047425088.1:c.1221C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X10 XP_047281044.1:p.Pro407= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X15 XM_047425089.1:c.999C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X12 XP_047281045.1:p.Pro333= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X17 XM_017016091.3:c.978C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X14 XP_016871580.1:p.Pro326= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X18 XM_047425090.1:c.966C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X15 XP_047281046.1:p.Pro322= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X19 XM_047425091.1:c.945C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X16 XP_047281047.1:p.Pro315= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X20 XM_047425092.1:c.939C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X17 XP_047281048.1:p.Pro313= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X21 XM_047425093.1:c.924C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X18 XP_047281049.1:p.Pro308= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X22 XM_047425094.1:c.918C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X19 XP_047281050.1:p.Pro306= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X23 XM_047425095.1:c.903C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X20 XP_047281051.1:p.Pro301= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X26 XM_024447945.2:c.561C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X23 XP_024303713.2:p.Pro187= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X27 XM_011539662.3:c.723C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X24 XP_011537964.1:p.Pro241= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X28 XM_006717775.3:c.702C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X25 XP_006717838.1:p.Pro234= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X29 XM_011539664.3:c.681C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X26 XP_011537966.1:p.Pro227= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X30 XM_047425098.1:c.675C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X27 XP_047281054.1:p.Pro225= P (Pro) > P (Pro) Synonymous Variant
POLL transcript variant X31 XM_006717777.3:c.660C>A P [CCC] > P [CCA] Coding Sequence Variant
DNA polymerase lambda isoform X28 XP_006717840.1:p.Pro220= P (Pro) > P (Pro) Synonymous 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 G= T
GRCh38.p14 chr 10 NC_000010.11:g.101579696= NC_000010.11:g.101579696G>T
GRCh37.p13 chr 10 NC_000010.10:g.103339453= NC_000010.10:g.103339453G>T
POLL RefSeqGene NG_017063.1:g.13575= NG_017063.1:g.13575C>A
POLL transcript variant 2 NM_013274.4:c.1485= NM_013274.4:c.1485C>A
POLL transcript variant 2 NM_013274.3:c.1485= NM_013274.3:c.1485C>A
POLL transcript variant 1 NM_001174084.2:c.1485= NM_001174084.2:c.1485C>A
POLL transcript variant 1 NM_001174084.1:c.1485= NM_001174084.1:c.1485C>A
POLL transcript variant 3 NM_001174085.2:c.1209= NM_001174085.2:c.1209C>A
POLL transcript variant 3 NM_001174085.1:c.1209= NM_001174085.1:c.1209C>A
POLL transcript variant 5 NM_001308382.2:c.660= NM_001308382.2:c.660C>A
POLL transcript variant 5 NM_001308382.1:c.660= NM_001308382.1:c.660C>A
POLL transcript variant 4 NR_033406.1:n.1516= NR_033406.1:n.1516C>A
POLL transcript variant X17 XM_017016091.3:c.978= XM_017016091.3:c.978C>A
POLL transcript variant X19 XM_017016091.2:c.978= XM_017016091.2:c.978C>A
POLL transcript variant X18 XM_017016091.1:c.978= XM_017016091.1:c.978C>A
POLL transcript variant X27 XM_011539662.3:c.723= XM_011539662.3:c.723C>A
POLL transcript variant X23 XM_011539662.2:c.723= XM_011539662.2:c.723C>A
POLL transcript variant X20 XM_011539662.1:c.723= XM_011539662.1:c.723C>A
POLL transcript variant X28 XM_006717775.3:c.702= XM_006717775.3:c.702C>A
POLL transcript variant X25 XM_006717775.2:c.702= XM_006717775.2:c.702C>A
POLL transcript variant X22 XM_006717775.1:c.702= XM_006717775.1:c.702C>A
POLL transcript variant X29 XM_011539664.3:c.681= XM_011539664.3:c.681C>A
POLL transcript variant X27 XM_011539664.2:c.681= XM_011539664.2:c.681C>A
POLL transcript variant X24 XM_011539664.1:c.681= XM_011539664.1:c.681C>A
POLL transcript variant X31 XM_006717777.3:c.660= XM_006717777.3:c.660C>A
POLL transcript variant X31 XM_006717777.2:c.660= XM_006717777.2:c.660C>A
POLL transcript variant X28 XM_006717777.1:c.660= XM_006717777.1:c.660C>A
POLL transcript variant X14 XM_017016088.3:c.*98= XM_017016088.3:c.*98C>A
POLL transcript variant X9 XM_024447942.2:c.1242= XM_024447942.2:c.1242C>A
POLL transcript variant X10 XM_024447942.1:c.1242= XM_024447942.1:c.1242C>A
POLL transcript variant X12 XM_024447943.2:c.1221= XM_024447943.2:c.1221C>A
POLL transcript variant X12 XM_024447943.1:c.1221= XM_024447943.1:c.1221C>A
POLL transcript variant X11 XM_011539657.2:c.1242= XM_011539657.2:c.1242C>A
POLL transcript variant X11 XM_011539657.1:c.1242= XM_011539657.1:c.1242C>A
POLL transcript variant X1 XM_011539650.2:c.1506= XM_011539650.2:c.1506C>A
POLL transcript variant X1 XM_011539650.1:c.1506= XM_011539650.1:c.1506C>A
POLL transcript variant X2 XM_011539651.2:c.1485= XM_011539651.2:c.1485C>A
POLL transcript variant X2 XM_011539651.1:c.1485= XM_011539651.1:c.1485C>A
POLL transcript variant X3 XM_011539654.2:c.1230= XM_011539654.2:c.1230C>A
POLL transcript variant X5 XM_011539654.1:c.1230= XM_011539654.1:c.1230C>A
POLL transcript variant X4 XM_011539655.2:c.1209= XM_011539655.2:c.1209C>A
POLL transcript variant X6 XM_011539655.1:c.1209= XM_011539655.1:c.1209C>A
POLL transcript variant X5 XM_017016084.2:c.1203= XM_017016084.2:c.1203C>A
POLL transcript variant X7 XM_017016084.1:c.1203= XM_017016084.1:c.1203C>A
POLL transcript variant X6 XM_011539656.2:c.1188= XM_011539656.2:c.1188C>A
POLL transcript variant X8 XM_011539656.1:c.1188= XM_011539656.1:c.1188C>A
POLL transcript variant X7 XM_017016085.2:c.1182= XM_017016085.2:c.1182C>A
POLL transcript variant X9 XM_017016085.1:c.1182= XM_017016085.1:c.1182C>A
POLL transcript variant X16 XM_017016090.2:c.*98= XM_017016090.2:c.*98C>A
POLL transcript variant X18 XM_017016090.1:c.*98= XM_017016090.1:c.*98C>A
POLL transcript variant X26 XM_024447945.2:c.561= XM_024447945.2:c.561C>A
POLL transcript variant X22 XM_024447945.1:c.771= XM_024447945.1:c.771C>A
POLL transcript variant X15 XM_047425089.1:c.999= XM_047425089.1:c.999C>A
POLL transcript variant X19 XM_047425091.1:c.945= XM_047425091.1:c.945C>A
POLL transcript variant X21 XM_047425093.1:c.924= XM_047425093.1:c.924C>A
POLL transcript variant X23 XM_047425095.1:c.903= XM_047425095.1:c.903C>A
POLL transcript variant X10 XM_047425087.1:c.1242= XM_047425087.1:c.1242C>A
POLL transcript variant X13 XM_047425088.1:c.1221= XM_047425088.1:c.1221C>A
POLL transcript variant X8 XM_047425086.1:c.1167= XM_047425086.1:c.1167C>A
POLL transcript variant X18 XM_047425090.1:c.966= XM_047425090.1:c.966C>A
POLL transcript variant X20 XM_047425092.1:c.939= XM_047425092.1:c.939C>A
POLL transcript variant X22 XM_047425094.1:c.918= XM_047425094.1:c.918C>A
POLL transcript variant X30 XM_047425098.1:c.675= XM_047425098.1:c.675C>A
DNA polymerase lambda isoform a NP_037406.1:p.Pro495= NP_037406.1:p.Pro495=
DNA polymerase lambda isoform a NP_001167555.1:p.Pro495= NP_001167555.1:p.Pro495=
DNA polymerase lambda isoform b NP_001167556.1:p.Pro403= NP_001167556.1:p.Pro403=
DNA polymerase lambda isoform c NP_001295311.1:p.Pro220= NP_001295311.1:p.Pro220=
DNA polymerase lambda isoform X14 XP_016871580.1:p.Pro326= XP_016871580.1:p.Pro326=
DNA polymerase lambda isoform X24 XP_011537964.1:p.Pro241= XP_011537964.1:p.Pro241=
DNA polymerase lambda isoform X25 XP_006717838.1:p.Pro234= XP_006717838.1:p.Pro234=
DNA polymerase lambda isoform X26 XP_011537966.1:p.Pro227= XP_011537966.1:p.Pro227=
DNA polymerase lambda isoform X28 XP_006717840.1:p.Pro220= XP_006717840.1:p.Pro220=
DNA polymerase lambda isoform X9 XP_024303710.1:p.Pro414= XP_024303710.1:p.Pro414=
DNA polymerase lambda isoform X10 XP_024303711.1:p.Pro407= XP_024303711.1:p.Pro407=
DNA polymerase lambda isoform X9 XP_011537959.1:p.Pro414= XP_011537959.1:p.Pro414=
DNA polymerase lambda isoform X1 XP_011537952.1:p.Pro502= XP_011537952.1:p.Pro502=
DNA polymerase lambda isoform X2 XP_011537953.1:p.Pro495= XP_011537953.1:p.Pro495=
DNA polymerase lambda isoform X3 XP_011537956.1:p.Pro410= XP_011537956.1:p.Pro410=
DNA polymerase lambda isoform X4 XP_011537957.1:p.Pro403= XP_011537957.1:p.Pro403=
DNA polymerase lambda isoform X5 XP_016871573.1:p.Pro401= XP_016871573.1:p.Pro401=
DNA polymerase lambda isoform X6 XP_011537958.1:p.Pro396= XP_011537958.1:p.Pro396=
DNA polymerase lambda isoform X7 XP_016871574.1:p.Pro394= XP_016871574.1:p.Pro394=
DNA polymerase lambda isoform X23 XP_024303713.2:p.Pro187= XP_024303713.2:p.Pro187=
DNA polymerase lambda isoform X12 XP_047281045.1:p.Pro333= XP_047281045.1:p.Pro333=
DNA polymerase lambda isoform X16 XP_047281047.1:p.Pro315= XP_047281047.1:p.Pro315=
DNA polymerase lambda isoform X18 XP_047281049.1:p.Pro308= XP_047281049.1:p.Pro308=
DNA polymerase lambda isoform X20 XP_047281051.1:p.Pro301= XP_047281051.1:p.Pro301=
DNA polymerase lambda isoform X9 XP_047281043.1:p.Pro414= XP_047281043.1:p.Pro414=
DNA polymerase lambda isoform X10 XP_047281044.1:p.Pro407= XP_047281044.1:p.Pro407=
DNA polymerase lambda isoform X8 XP_047281042.1:p.Pro389= XP_047281042.1:p.Pro389=
DNA polymerase lambda isoform X15 XP_047281046.1:p.Pro322= XP_047281046.1:p.Pro322=
DNA polymerase lambda isoform X17 XP_047281048.1:p.Pro313= XP_047281048.1:p.Pro313=
DNA polymerase lambda isoform X19 XP_047281050.1:p.Pro306= XP_047281050.1:p.Pro306=
DNA polymerase lambda isoform X27 XP_047281054.1:p.Pro225= XP_047281054.1:p.Pro225=
DPCD transcript variant X1 XM_005269671.1:c.-327-462= XM_005269671.1:c.-327-462G>T
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738479120 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000010.10 - 103339453 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
7680729, ss2738479120 NC_000010.10:103339452:G:T NC_000010.11:101579695:G: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 rs1481132312

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