S1PR2

sphingosine-1-phosphate receptor 2

Summary

This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. The encoded protein is a receptor for sphingosine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this gene have been associated with congenital profound deafness. [provided by RefSeq, Mar 2016]

Known Variants103 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11630937919:10,334,382G/A—likely benign
rs53782657519:10,334,440C/T—likely benign
rs211694119:10,334,443C/A—benign
rs11619185119:10,334,532G/A—benign
rs54029689419:10,334,548G/A—uncertain significance
rs56175176419:10,334,550G/A—likely benign
rs37737694419:10,334,556C/T—likely benign
rs124360335019:10,334,564T/A—uncertain significance
rs76469162619:10,334,583G/A—likely benign
rs138103649119:10,334,589G/A—likely benign
rs14324634819:10,334,596C/T—uncertain significance
rs76537801619:10,334,597G/A—uncertain significance
rs14670982719:10,334,601T/C—likely benign
rs74810893419:10,334,619C/T—likely benign
rs13909758519:10,334,627C/T—conflicting classifications of pathogenicity
rs37616201619:10,334,633G/A—uncertain significance
rs77722650119:10,334,638C/T—uncertain significance
rs76243756319:10,334,639G/A—conflicting classifications of pathogenicity
rs75050720219:10,334,648C/G—uncertain significance
rs20097398319:10,334,659G/A—likely benign
rs211694219:10,334,663T/A—likely benign
rs251395876719:10,334,666A/G—uncertain significance
rs14986591919:10,334,679C/T—benign
rs55116628019:10,334,681G/A—likely benign
rs77363587519:10,334,692C/G—uncertain significance
rs76306831919:10,334,693G/A—uncertain significance
rs3549350019:10,334,700G/A—benign
rs37640379719:10,334,704C/T—uncertain significance
rs37069820019:10,334,705G/A—uncertain significance
rs251395886619:10,334,719T/C—uncertain significance
rs14490381219:10,334,722A/G—uncertain significance
rs11706482719:10,334,725A/G—likely benign
rs20209200319:10,334,727G/A—likely benign
rs18670854319:10,334,738G/A—likely benign
rs14653793119:10,334,756C/T—conflicting classifications of pathogenicity
rs57271189119:10,334,788G/T—uncertain significance
rs19982484119:10,334,801C/T—uncertain significance
rs14137924519:10,334,838G/T—likely benign
rs14831510219:10,334,853G/A—likely benign
rs14147189419:10,334,861C/T—uncertain significance
rs15039568419:10,334,865T/C—likely benign
rs156827524019:10,334,880C/T—likely benign
rs75765759719:10,334,904C/T—likely benign
rs14304672319:10,334,909C/T—conflicting classifications of pathogenicity
rs7392235619:10,334,910G/A—benign
rs74719153519:10,334,918C/G—uncertain significance
rs13896241419:10,334,932C/T—uncertain significance
rs7948211719:10,334,940G/A—benign
rs14123042419:10,334,950C/T—uncertain significance
rs20094889919:10,334,967G/A—likely benign
rs78066652219:10,335,004C/A—uncertain significance
rs54875491219:10,335,008G/A—uncertain significance
rs14257078319:10,335,012A/G—likely benign
rs15050491119:10,335,017G/C—uncertain significance
rs19995422019:10,335,024G/A—likely benign
rs13947699019:10,335,053C/T—uncertain significance
rs37569312819:10,335,096G/A—likely benign
rs14451048319:10,335,102C/T—likely benign
rs20096552819:10,335,105C/T—likely benign
rs75882647519:10,335,106G/A—uncertain significance
rs57151581519:10,335,117C/T—likely benign
rs53901913619:10,335,126G/A—likely benign
rs203961691719:10,335,138C/G—uncertain significance
rs77499080919:10,335,153G/A—conflicting classifications of pathogenicity
rs214544122319:10,335,158T/C—uncertain significance
rs86931275019:10,335,163T/Cmissense variantpathogenic
rs14786041719:10,335,171G/A—likely benign
rs251395973719:10,335,175T/C—uncertain significance
rs55453439319:10,335,189G/A—likely benign
rs20043992919:10,335,194G/A—uncertain significance
rs133714277019:10,335,202G/A—uncertain significance
rs97992305519:10,335,238G/A—uncertain significance
rs251395984119:10,335,241A/C—uncertain significance
rs74557708319:10,335,249A/G—likely benign
rs86931274919:10,335,259C/Gmissense variantpathogenic
rs76153493919:10,335,285C/T—likely benign
rs76809428319:10,335,291C/T—likely benign
rs143109003519:10,335,292G/A—uncertain significance
rs14145192319:10,335,324G/A—likely benign
rs7392235719:10,335,333G/A—benign
rs77905801619:10,335,352G/A—uncertain significance
rs75022409919:10,335,353C/T—uncertain significance
rs20136149019:10,335,354G/A—likely benign
rs203961961919:10,335,384C/T—likely benign
rs374526819:10,335,403C/T—likely benign
rs251396009619:10,335,416T/G—uncertain significance
rs77643203519:10,335,469G/C—uncertain significance
rs74766314419:10,335,475G/A—uncertain significance
rs203962121319:10,335,480C/G—uncertain significance
rs37333232619:10,335,487G/A—uncertain significance
rs77601059819:10,335,492C/T—likely benign
rs74743573619:10,335,501C/T—likely benign
rs37676753119:10,335,502G/A—uncertain significance
rs18964550319:10,335,511G/A—uncertain significance
rs133559490319:10,335,521T/C—uncertain significance
rs5635761419:10,335,552T/G—benign
rs1187851619:10,335,780C/T—benign
rs7417990319:10,335,923G/A—benign
rs480449619:10,338,764A/Gupstream gene variant—
rs7301513819:10,339,237C/Tupstream gene variant—

Showing 100 of 103 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.