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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.

rs1485228910

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:126899252 (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=0.000008 (1/128072, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TEX51 : Missense Variant
LOC105373603 : 2KB Upstream 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 128072 T=0.999992 C=0.000008
gnomAD - Exomes European Sub 52730 T=1.00000 C=0.00000
gnomAD - Exomes Asian Sub 32816 T=0.99997 C=0.00003
gnomAD - Exomes American Sub 24354 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 8092 T=1.0000 C=0.0000
gnomAD - Exomes African Sub 6086 T=1.0000 C=0.0000
gnomAD - Exomes Other Sub 3994 T=1.0000 C=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 2 NC_000002.12:g.126899252T>C
GRCh37.p13 chr 2 NC_000002.11:g.127656828T>C
Gene: TEX51, testis expressed 51 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TEX51 transcript variant 1 NM_001322244.2:c.181T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform 1 precursor NP_001309173.1:p.Phe61Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant 2 NR_136239.2:n.210T>C N/A Non Coding Transcript Variant
TEX51 transcript variant X1 XM_011512269.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X1 XP_011510571.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X2 XM_011512270.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X2 XP_011510572.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X3 XM_011512271.2:c.181T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X3 XP_011510573.1:p.Phe61Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X4 XM_047442880.1:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X4 XP_047298836.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X5 XM_011512272.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X5 XP_011510574.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X6 XM_017003148.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X6 XP_016858637.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X7 XM_011512273.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X7 XP_011510575.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X8 XM_047442881.1:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X8 XP_047298837.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X9 XM_047442882.1:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X9 XP_047298838.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X10 XM_011512274.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X10 XP_011510576.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X11 XM_011512275.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X11 XP_011510577.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X8 XM_011512276.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X8 XP_011510578.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X13 XM_047442883.1:c.181T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X12 XP_047298839.1:p.Phe61Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X14 XM_047442884.1:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X13 XP_047298840.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X9 XM_011512277.3:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X9 XP_011510579.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X10 XM_047442885.1:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X10 XP_047298841.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X11 XM_017003149.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X11 XP_016858638.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X18 XM_017003150.2:c.181T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X17 XP_016858639.1:p.Phe61Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X12 XM_011512278.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X12 XP_011510580.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X13 XM_011512279.2:c.235T>C F [TTC] > L [CTC] Coding Sequence Variant
testis-expressed protein 51 isoform X13 XP_011510581.1:p.Phe79Leu F (Phe) > L (Leu) Missense Variant
TEX51 transcript variant X14 XR_001738585.2:n.264T>C N/A Non Coding Transcript Variant
Gene: LOC105373603, uncharacterized LOC105373603 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC105373603 transcript XR_001739213.1:n. N/A Upstream 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 T= C
GRCh38.p14 chr 2 NC_000002.12:g.126899252= NC_000002.12:g.126899252T>C
GRCh37.p13 chr 2 NC_000002.11:g.127656828= NC_000002.11:g.127656828T>C
TEX51 transcript variant X9 XM_011512277.3:c.235= XM_011512277.3:c.235T>C
TEX51 transcript variant X10 XM_011512277.2:c.235= XM_011512277.2:c.235T>C
LOC101929926 transcript variant X18 XM_011512277.1:c.235= XM_011512277.1:c.235T>C
TEX51 transcript variant X5 XM_011512272.2:c.235= XM_011512272.2:c.235T>C
TEX51 transcript variant X4 XM_011512272.1:c.235= XM_011512272.1:c.235T>C
TEX51 transcript variant X6 XM_017003148.2:c.235= XM_017003148.2:c.235T>C
TEX51 transcript variant X5 XM_017003148.1:c.235= XM_017003148.1:c.235T>C
TEX51 transcript variant X11 XM_011512275.2:c.235= XM_011512275.2:c.235T>C
TEX51 transcript variant X8 XM_011512275.1:c.235= XM_011512275.1:c.235T>C
TEX51 transcript variant X8 XM_011512276.2:c.235= XM_011512276.2:c.235T>C
TEX51 transcript variant X9 XM_011512276.1:c.235= XM_011512276.1:c.235T>C
TEX51 transcript variant X1 XM_011512269.2:c.235= XM_011512269.2:c.235T>C
TEX51 transcript variant X1 XM_011512269.1:c.235= XM_011512269.1:c.235T>C
TEX51 transcript variant X2 XM_011512270.2:c.235= XM_011512270.2:c.235T>C
TEX51 transcript variant X2 XM_011512270.1:c.235= XM_011512270.1:c.235T>C
TEX51 transcript variant X18 XM_017003150.2:c.181= XM_017003150.2:c.181T>C
TEX51 transcript variant X12 XM_017003150.1:c.181= XM_017003150.1:c.181T>C
TEX51 transcript variant 1 NM_001322244.2:c.181= NM_001322244.2:c.181T>C
TEX51 transcript variant 1 NM_001322244.1:c.181= NM_001322244.1:c.181T>C
TEX51 transcript variant X14 XR_001738585.2:n.264= XR_001738585.2:n.264T>C
TEX51 transcript variant X15 XR_001738585.1:n.276= XR_001738585.1:n.276T>C
TEX51 transcript variant X12 XM_011512278.2:c.235= XM_011512278.2:c.235T>C
TEX51 transcript variant X13 XM_011512278.1:c.235= XM_011512278.1:c.235T>C
TEX51 transcript variant X3 XM_011512271.2:c.181= XM_011512271.2:c.181T>C
TEX51 transcript variant X3 XM_011512271.1:c.181= XM_011512271.1:c.181T>C
TEX51 transcript variant X11 XM_017003149.2:c.235= XM_017003149.2:c.235T>C
TEX51 transcript variant X11 XM_017003149.1:c.235= XM_017003149.1:c.235T>C
TEX51 transcript variant 2 NR_136239.2:n.210= NR_136239.2:n.210T>C
TEX51 transcript variant 2 NR_136239.1:n.214= NR_136239.1:n.214T>C
TEX51 transcript variant X13 XM_011512279.2:c.235= XM_011512279.2:c.235T>C
TEX51 transcript variant X14 XM_011512279.1:c.235= XM_011512279.1:c.235T>C
TEX51 transcript variant X7 XM_011512273.2:c.235= XM_011512273.2:c.235T>C
TEX51 transcript variant X6 XM_011512273.1:c.235= XM_011512273.1:c.235T>C
TEX51 transcript variant X10 XM_011512274.2:c.235= XM_011512274.2:c.235T>C
TEX51 transcript variant X7 XM_011512274.1:c.235= XM_011512274.1:c.235T>C
TEX51 transcript variant X8 XM_047442881.1:c.235= XM_047442881.1:c.235T>C
TEX51 transcript variant 3 NM_001410921.1:c.235= NM_001410921.1:c.235T>C
TEX51 transcript variant X9 XM_047442882.1:c.235= XM_047442882.1:c.235T>C
TEX51 transcript variant X4 XM_047442880.1:c.235= XM_047442880.1:c.235T>C
TEX51 transcript variant X13 XM_047442883.1:c.181= XM_047442883.1:c.181T>C
TEX51 transcript variant X14 XM_047442884.1:c.235= XM_047442884.1:c.235T>C
TEX51 transcript variant X10 XM_047442885.1:c.235= XM_047442885.1:c.235T>C
testis-expressed protein 51 isoform X9 XP_011510579.1:p.Phe79= XP_011510579.1:p.Phe79Leu
testis-expressed protein 51 isoform X5 XP_011510574.1:p.Phe79= XP_011510574.1:p.Phe79Leu
testis-expressed protein 51 isoform X6 XP_016858637.1:p.Phe79= XP_016858637.1:p.Phe79Leu
testis-expressed protein 51 isoform X11 XP_011510577.1:p.Phe79= XP_011510577.1:p.Phe79Leu
testis-expressed protein 51 isoform X8 XP_011510578.1:p.Phe79= XP_011510578.1:p.Phe79Leu
testis-expressed protein 51 isoform X1 XP_011510571.1:p.Phe79= XP_011510571.1:p.Phe79Leu
testis-expressed protein 51 isoform X2 XP_011510572.1:p.Phe79= XP_011510572.1:p.Phe79Leu
testis-expressed protein 51 isoform X17 XP_016858639.1:p.Phe61= XP_016858639.1:p.Phe61Leu
testis-expressed protein 51 isoform 1 precursor NP_001309173.1:p.Phe61= NP_001309173.1:p.Phe61Leu
testis-expressed protein 51 isoform X12 XP_011510580.1:p.Phe79= XP_011510580.1:p.Phe79Leu
testis-expressed protein 51 isoform X3 XP_011510573.1:p.Phe61= XP_011510573.1:p.Phe61Leu
testis-expressed protein 51 isoform X11 XP_016858638.1:p.Phe79= XP_016858638.1:p.Phe79Leu
testis-expressed protein 51 isoform X13 XP_011510581.1:p.Phe79= XP_011510581.1:p.Phe79Leu
testis-expressed protein 51 isoform X7 XP_011510575.1:p.Phe79= XP_011510575.1:p.Phe79Leu
testis-expressed protein 51 isoform X10 XP_011510576.1:p.Phe79= XP_011510576.1:p.Phe79Leu
testis-expressed protein 51 isoform X8 XP_047298837.1:p.Phe79= XP_047298837.1:p.Phe79Leu
testis-expressed protein 51 isoform X9 XP_047298838.1:p.Phe79= XP_047298838.1:p.Phe79Leu
testis-expressed protein 51 isoform X4 XP_047298836.1:p.Phe79= XP_047298836.1:p.Phe79Leu
testis-expressed protein 51 isoform X12 XP_047298839.1:p.Phe61= XP_047298839.1:p.Phe61Leu
testis-expressed protein 51 isoform X13 XP_047298840.1:p.Phe79= XP_047298840.1:p.Phe79Leu
testis-expressed protein 51 isoform X10 XP_047298841.1:p.Phe79= XP_047298841.1:p.Phe79Leu
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 ss2732954813 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000002.11 - 127656828 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
2011741, ss2732954813 NC_000002.11:127656827:T:C NC_000002.12:126899251: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 rs1485228910

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