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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.

rs1481090537

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:153558286 (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=0.000007 (1/140270, GnomAD)
T=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TMEM131L : 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 10680 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 C=1.00 T=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 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=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 466 C=1.000 T=0.000 1.0 0.0 0.0 N/A


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 - Genomes Global Study-wide 140270 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75954 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42056 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13650 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=0.9997 T=0.0003
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 10680 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 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 4 NC_000004.12:g.153558286C>T
GRCh37.p13 chr 4 NC_000004.11:g.154479438C>T
Gene: TMEM131L, transmembrane 131 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TMEM131L transcript variant 1 NM_001131007.2:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform 1 precursor NP_001124479.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant 2 NM_015196.4:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform 2 precursor NP_056011.3:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X40 XM_024453958.2:c. N/A Genic Upstream Transcript Variant
TMEM131L transcript variant X1 XM_047449899.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X1 XP_047305855.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X2 XM_047449900.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X2 XP_047305856.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X3 XM_047449901.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X3 XP_047305857.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X4 XM_011531780.2:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X4 XP_011530082.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X5 XM_011531781.2:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X5 XP_011530083.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X6 XM_047449902.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X6 XP_047305858.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X7 XM_047449903.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X7 XP_047305859.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X8 XM_047449904.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X8 XP_047305860.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X9 XM_047449905.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X9 XP_047305861.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X10 XM_024453956.2:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X10 XP_024309724.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X11 XM_047449906.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X11 XP_047305862.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X12 XM_024453957.2:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X12 XP_024309725.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X13 XM_047449907.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X13 XP_047305863.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X14 XM_047449908.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X14 XP_047305864.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X15 XM_047449909.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X15 XP_047305865.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X16 XM_047449910.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X16 XP_047305866.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X17 XM_017007925.2:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X17 XP_016863414.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X18 XM_017007926.2:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X18 XP_016863415.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X19 XM_047449911.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X19 XP_047305867.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X20 XM_047449912.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X20 XP_047305868.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X21 XM_047449913.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X21 XP_047305869.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X22 XM_047449914.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X22 XP_047305870.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X23 XM_047449915.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X23 XP_047305871.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X24 XM_047449916.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X24 XP_047305872.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X25 XM_047449917.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X25 XP_047305873.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X26 XM_047449918.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X26 XP_047305874.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X27 XM_047449919.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X27 XP_047305875.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X28 XM_011531783.2:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X28 XP_011530085.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X29 XM_047449920.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X29 XP_047305876.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X30 XM_047449921.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X30 XP_047305877.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X31 XM_047449922.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X31 XP_047305878.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X32 XM_047449923.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X32 XP_047305879.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X33 XM_047449924.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X33 XP_047305880.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X34 XM_047449925.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X34 XP_047305881.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X35 XM_047449926.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X35 XP_047305882.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X36 XM_047449927.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X36 XP_047305883.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X37 XM_047449928.1:c.578C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X37 XP_047305884.1:p.Ser193Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X38 XM_047449929.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X38 XP_047305885.1:p.Ser222Phe S (Ser) > F (Phe) Missense Variant
TMEM131L transcript variant X39 XM_047449930.1:c.665C>T S [TCT] > F [TTT] Coding Sequence Variant
transmembrane protein 131-like isoform X39 XP_047305886.1:p.Ser222Phe S (Ser) > F (Phe) 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 C= T
GRCh38.p14 chr 4 NC_000004.12:g.153558286= NC_000004.12:g.153558286C>T
GRCh37.p13 chr 4 NC_000004.11:g.154479438= NC_000004.11:g.154479438C>T
TMEM131L transcript variant 2 NM_015196.4:c.578= NM_015196.4:c.578C>T
TMEM131L transcript variant 2 NM_015196.3:c.578= NM_015196.3:c.578C>T
TMEM131L transcript variant X4 XM_011531780.2:c.665= XM_011531780.2:c.665C>T
TMEM131L transcript variant X1 XM_011531780.1:c.665= XM_011531780.1:c.665C>T
TMEM131L transcript variant X5 XM_011531781.2:c.665= XM_011531781.2:c.665C>T
TMEM131L transcript variant X2 XM_011531781.1:c.665= XM_011531781.1:c.665C>T
TMEM131L transcript variant X28 XM_011531783.2:c.665= XM_011531783.2:c.665C>T
TMEM131L transcript variant X7 XM_011531783.1:c.665= XM_011531783.1:c.665C>T
TMEM131L transcript variant X10 XM_024453956.2:c.578= XM_024453956.2:c.578C>T
TMEM131L transcript variant X3 XM_024453956.1:c.578= XM_024453956.1:c.578C>T
TMEM131L transcript variant X12 XM_024453957.2:c.578= XM_024453957.2:c.578C>T
TMEM131L transcript variant X4 XM_024453957.1:c.578= XM_024453957.1:c.578C>T
TMEM131L transcript variant 1 NM_001131007.2:c.578= NM_001131007.2:c.578C>T
TMEM131L transcript variant 1 NM_001131007.1:c.578= NM_001131007.1:c.578C>T
TMEM131L transcript variant X17 XM_017007925.2:c.578= XM_017007925.2:c.578C>T
TMEM131L transcript variant X5 XM_017007925.1:c.578= XM_017007925.1:c.578C>T
TMEM131L transcript variant X18 XM_017007926.2:c.578= XM_017007926.2:c.578C>T
TMEM131L transcript variant X6 XM_017007926.1:c.578= XM_017007926.1:c.578C>T
TMEM131L transcript variant X1 XM_047449899.1:c.665= XM_047449899.1:c.665C>T
TMEM131L transcript variant X3 XM_047449901.1:c.665= XM_047449901.1:c.665C>T
TMEM131L transcript variant X2 XM_047449900.1:c.665= XM_047449900.1:c.665C>T
TMEM131L transcript variant X6 XM_047449902.1:c.665= XM_047449902.1:c.665C>T
TMEM131L transcript variant X7 XM_047449903.1:c.665= XM_047449903.1:c.665C>T
TMEM131L transcript variant X8 XM_047449904.1:c.665= XM_047449904.1:c.665C>T
TMEM131L transcript variant X9 XM_047449905.1:c.665= XM_047449905.1:c.665C>T
TMEM131L transcript variant X14 XM_047449908.1:c.665= XM_047449908.1:c.665C>T
TMEM131L transcript variant X15 XM_047449909.1:c.665= XM_047449909.1:c.665C>T
TMEM131L transcript variant X16 XM_047449910.1:c.665= XM_047449910.1:c.665C>T
TMEM131L transcript variant X25 XM_047449917.1:c.665= XM_047449917.1:c.665C>T
TMEM131L transcript variant X26 XM_047449918.1:c.665= XM_047449918.1:c.665C>T
TMEM131L transcript variant X27 XM_047449919.1:c.665= XM_047449919.1:c.665C>T
TMEM131L transcript variant X29 XM_047449920.1:c.665= XM_047449920.1:c.665C>T
TMEM131L transcript variant X11 XM_047449906.1:c.578= XM_047449906.1:c.578C>T
TMEM131L transcript variant X13 XM_047449907.1:c.578= XM_047449907.1:c.578C>T
TMEM131L transcript variant X19 XM_047449911.1:c.578= XM_047449911.1:c.578C>T
TMEM131L transcript variant X20 XM_047449912.1:c.578= XM_047449912.1:c.578C>T
TMEM131L transcript variant X38 XM_047449929.1:c.665= XM_047449929.1:c.665C>T
TMEM131L transcript variant X21 XM_047449913.1:c.578= XM_047449913.1:c.578C>T
TMEM131L transcript variant X23 XM_047449915.1:c.578= XM_047449915.1:c.578C>T
TMEM131L transcript variant X22 XM_047449914.1:c.578= XM_047449914.1:c.578C>T
TMEM131L transcript variant X24 XM_047449916.1:c.578= XM_047449916.1:c.578C>T
TMEM131L transcript variant X30 XM_047449921.1:c.578= XM_047449921.1:c.578C>T
TMEM131L transcript variant X31 XM_047449922.1:c.578= XM_047449922.1:c.578C>T
TMEM131L transcript variant X32 XM_047449923.1:c.578= XM_047449923.1:c.578C>T
TMEM131L transcript variant X34 XM_047449925.1:c.578= XM_047449925.1:c.578C>T
TMEM131L transcript variant X33 XM_047449924.1:c.578= XM_047449924.1:c.578C>T
TMEM131L transcript variant X35 XM_047449926.1:c.578= XM_047449926.1:c.578C>T
TMEM131L transcript variant X39 XM_047449930.1:c.665= XM_047449930.1:c.665C>T
TMEM131L transcript variant X36 XM_047449927.1:c.578= XM_047449927.1:c.578C>T
TMEM131L transcript variant X37 XM_047449928.1:c.578= XM_047449928.1:c.578C>T
transmembrane protein 131-like isoform 2 precursor NP_056011.3:p.Ser193= NP_056011.3:p.Ser193Phe
transmembrane protein 131-like isoform X4 XP_011530082.1:p.Ser222= XP_011530082.1:p.Ser222Phe
transmembrane protein 131-like isoform X5 XP_011530083.1:p.Ser222= XP_011530083.1:p.Ser222Phe
transmembrane protein 131-like isoform X28 XP_011530085.1:p.Ser222= XP_011530085.1:p.Ser222Phe
transmembrane protein 131-like isoform X10 XP_024309724.1:p.Ser193= XP_024309724.1:p.Ser193Phe
transmembrane protein 131-like isoform X12 XP_024309725.1:p.Ser193= XP_024309725.1:p.Ser193Phe
transmembrane protein 131-like isoform 1 precursor NP_001124479.1:p.Ser193= NP_001124479.1:p.Ser193Phe
transmembrane protein 131-like isoform X17 XP_016863414.1:p.Ser193= XP_016863414.1:p.Ser193Phe
transmembrane protein 131-like isoform X18 XP_016863415.1:p.Ser193= XP_016863415.1:p.Ser193Phe
transmembrane protein 131-like isoform X1 XP_047305855.1:p.Ser222= XP_047305855.1:p.Ser222Phe
transmembrane protein 131-like isoform X3 XP_047305857.1:p.Ser222= XP_047305857.1:p.Ser222Phe
transmembrane protein 131-like isoform X2 XP_047305856.1:p.Ser222= XP_047305856.1:p.Ser222Phe
transmembrane protein 131-like isoform X6 XP_047305858.1:p.Ser222= XP_047305858.1:p.Ser222Phe
transmembrane protein 131-like isoform X7 XP_047305859.1:p.Ser222= XP_047305859.1:p.Ser222Phe
transmembrane protein 131-like isoform X8 XP_047305860.1:p.Ser222= XP_047305860.1:p.Ser222Phe
transmembrane protein 131-like isoform X9 XP_047305861.1:p.Ser222= XP_047305861.1:p.Ser222Phe
transmembrane protein 131-like isoform X14 XP_047305864.1:p.Ser222= XP_047305864.1:p.Ser222Phe
transmembrane protein 131-like isoform X15 XP_047305865.1:p.Ser222= XP_047305865.1:p.Ser222Phe
transmembrane protein 131-like isoform X16 XP_047305866.1:p.Ser222= XP_047305866.1:p.Ser222Phe
transmembrane protein 131-like isoform X25 XP_047305873.1:p.Ser222= XP_047305873.1:p.Ser222Phe
transmembrane protein 131-like isoform X26 XP_047305874.1:p.Ser222= XP_047305874.1:p.Ser222Phe
transmembrane protein 131-like isoform X27 XP_047305875.1:p.Ser222= XP_047305875.1:p.Ser222Phe
transmembrane protein 131-like isoform X29 XP_047305876.1:p.Ser222= XP_047305876.1:p.Ser222Phe
transmembrane protein 131-like isoform X11 XP_047305862.1:p.Ser193= XP_047305862.1:p.Ser193Phe
transmembrane protein 131-like isoform X13 XP_047305863.1:p.Ser193= XP_047305863.1:p.Ser193Phe
transmembrane protein 131-like isoform X19 XP_047305867.1:p.Ser193= XP_047305867.1:p.Ser193Phe
transmembrane protein 131-like isoform X20 XP_047305868.1:p.Ser193= XP_047305868.1:p.Ser193Phe
transmembrane protein 131-like isoform X38 XP_047305885.1:p.Ser222= XP_047305885.1:p.Ser222Phe
transmembrane protein 131-like isoform X21 XP_047305869.1:p.Ser193= XP_047305869.1:p.Ser193Phe
transmembrane protein 131-like isoform X23 XP_047305871.1:p.Ser193= XP_047305871.1:p.Ser193Phe
transmembrane protein 131-like isoform X22 XP_047305870.1:p.Ser193= XP_047305870.1:p.Ser193Phe
transmembrane protein 131-like isoform X24 XP_047305872.1:p.Ser193= XP_047305872.1:p.Ser193Phe
transmembrane protein 131-like isoform X30 XP_047305877.1:p.Ser193= XP_047305877.1:p.Ser193Phe
transmembrane protein 131-like isoform X31 XP_047305878.1:p.Ser193= XP_047305878.1:p.Ser193Phe
transmembrane protein 131-like isoform X32 XP_047305879.1:p.Ser193= XP_047305879.1:p.Ser193Phe
transmembrane protein 131-like isoform X34 XP_047305881.1:p.Ser193= XP_047305881.1:p.Ser193Phe
transmembrane protein 131-like isoform X33 XP_047305880.1:p.Ser193= XP_047305880.1:p.Ser193Phe
transmembrane protein 131-like isoform X35 XP_047305882.1:p.Ser193= XP_047305882.1:p.Ser193Phe
transmembrane protein 131-like isoform X39 XP_047305886.1:p.Ser222= XP_047305886.1:p.Ser222Phe
transmembrane protein 131-like isoform X36 XP_047305883.1:p.Ser193= XP_047305883.1:p.Ser193Phe
transmembrane protein 131-like isoform X37 XP_047305884.1:p.Ser193= XP_047305884.1:p.Ser193Phe
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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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2747316343 Nov 08, 2017 (151)
2 GNOMAD ss2817156741 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000004.12 - 153558286 Apr 25, 2021 (155)
4 ALFA NC_000004.12 - 153558286 Apr 25, 2021 (155)
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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
ss2747316343, ss2817156741 NC_000004.11:154479437:C:T NC_000004.12:153558285:C:T (self)
169823189, 1015802283 NC_000004.12:153558285:C:T NC_000004.12:153558285: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 rs1481090537

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