SPNS2

SPNS lysolipid transporter 2, sphingosine-1-phosphate

Summary

The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]

Known Variants90 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7679047417:4,401,974A/G—benign
rs14764646417:4,402,190G/C—benign
rs140104377217:4,402,458G/C—uncertain significance
rs122626917417:4,402,537G/T—uncertain significance
rs250768423317:4,402,547A/C—uncertain significance
rs250768428117:4,402,555C/T—likely benign
rs190438496317:4,402,557C/G—uncertain significance
rs56844326017:4,402,558C/T—benign
rs190438569117:4,402,562A/C—uncertain significance
rs250768436617:4,402,571A/C—uncertain significance
rs18456617:4,402,803T/C—benign
rs721370717:4,414,027A/G—association
rs989469717:4,416,638A/G—benign
rs721427017:4,416,674T/C—benign
rs190523133317:4,428,402G/A—uncertain significance
rs190523156317:4,428,406G/A—uncertain significance
rs102389071617:4,428,446C/G—uncertain significance
rs37264779417:4,428,455C/G—likely benign
rs77310128017:4,428,456G/A—uncertain significance
rs7841235717:4,428,540G/T—benign
rs11159773717:4,433,823C/G—benign
rs6174383517:4,433,962G/A—benign
rs77858149717:4,433,996C/G—uncertain significance
rs53129066417:4,434,036C/T—uncertain significance
rs7283009317:4,434,345T/C—benign
rs75936606117:4,434,391G/A—uncertain significance
rs6139937317:4,434,450C/T—benign
rs5815003817:4,434,471G/C—benign
rs6206493117:4,435,667G/A—benign
rs77100218017:4,435,846G/A—likely benign
rs250773897617:4,435,909G/A—uncertain significance
rs14222440417:4,435,911C/A—likely benign
rs77104143717:4,435,915C/G—uncertain significance
rs37414763517:4,435,921G/A—uncertain significance
rs76243901717:4,435,939C/T—uncertain significance
rs19982437417:4,435,940G/A—uncertain significance
rs190554513017:4,435,950G/A—likely pathogenic
rs126633618317:4,435,974T/C—likely benign
rs989223217:4,436,005T/C—benign
rs20172301817:4,436,282G/A—uncertain significance
rs20212856617:4,436,298C/G—likely benign
rs6173334517:4,436,302G/A—benign
rs6174630717:4,436,354C/T—likely benign
rs18214170817:4,436,362C/T—likely benign
rs20031705517:4,436,394G/C—uncertain significance
rs250774144717:4,436,539C/T—uncertain significance
rs36840079317:4,436,614C/T—uncertain significance
rs76670243617:4,436,629C/T—uncertain significance
rs37099059017:4,436,630G/A—uncertain significance
rs20126792517:4,436,671G/T—benign
rs190559284517:4,436,683T/G—uncertain significance
rs13839165017:4,436,694C/T—likely benign
rs14961520917:4,436,698G/A—likely benign
rs36908700617:4,436,716G/A—uncertain significance
rs7333584317:4,436,869C/T—benign
rs1294915817:4,436,897A/G—benign
rs11350448817:4,436,931G/A—benign
rs20046157217:4,437,095G/A—likely benign
rs36784047217:4,437,105C/G—uncertain significance
rs479020217:4,437,214T/C—benign
rs107607317:4,439,152G/C——
rs1107851417:4,439,282A/G—benign
rs107720017:4,439,313A/G—benign
rs102056349117:4,439,373C/T—likely benign
rs37697761517:4,439,388G/A—likely benign
rs76278152717:4,439,389C/T—uncertain significance
rs37140098517:4,439,390G/A—uncertain significance
rs14748704817:4,439,394C/T—likely benign
rs76390647317:4,439,443G/A—uncertain significance
rs14342180417:4,439,496C/A—benign
rs1294573217:4,439,497A/G—benign
rs107607117:4,439,501C/G—benign
rs1165811417:4,439,512A/G—benign
rs990845017:4,439,515G/T—benign
rs107607217:4,439,532T/C—benign
rs75986067917:4,439,573C/T—uncertain significance
rs118155071917:4,439,597C/T—uncertain significance
rs104194503517:4,439,626G/A—likely benign
rs120147188117:4,439,633C/T—uncertain significance
rs14868895017:4,439,675G/A—uncertain significance
rs18307487017:4,439,683G/C—likely benign
rs20145685817:4,439,693G/A—uncertain significance
rs20003305117:4,439,704C/A—likely benign
rs20012116917:4,439,705G/A—benign
rs20209555417:4,439,730G/C—likely benign
rs1294556217:4,439,795C/G—benign
rs7651395317:4,439,809G/C—benign
rs74725617:4,439,828C/A—benign
rs11647643017:4,440,181C/T—benign
rs20161971917:4,440,220G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.