SLC12A5

solute carrier family 12 member 5

Summary

K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]

Known Variants788 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1043273520:44,650,318A/T—benign
rs86877805820:44,650,409G/A—uncertain significance
rs142312316020:44,650,412G/A—uncertain significance
rs77907090320:44,650,436C/G—uncertain significance
rs214546360220:44,650,438C/G—uncertain significance
rs77768162720:44,650,475G/A—uncertain significance
rs55571002420:44,650,478G/A—uncertain significance
rs74911825220:44,650,479G/A—likely benign
rs144777977420:44,650,511G/A—uncertain significance
rs75906739420:44,650,520T/A—uncertain significance
rs100839351420:44,650,529G/C—uncertain significance
rs208435844220:44,650,533C/A—likely benign
rs613099720:44,650,818A/G—benign
rs5836648320:44,651,616A/G—likely benign
rs1247999320:44,651,787C/T—benign
rs736395020:44,652,392T/G——
rs90086963020:44,657,989A/G—likely benign
rs251562652220:44,657,992C/T—likely benign
rs53872754720:44,658,000C/T—uncertain significance
rs119349678320:44,658,001G/A—likely benign
rs141168861120:44,658,004C/A—uncertain significance
rs208442448920:44,658,007C/A—pathogenic
rs251562654620:44,658,008G/A—uncertain significance
rs195520714620:44,658,009A/G—uncertain significance
rs93377145120:44,658,013C/A—uncertain significance
rs214547381420:44,658,016C/A—likely benign
rs99826716820:44,658,019T/C—likely benign
rs214547382720:44,658,022G/C—likely benign
rs146479541520:44,658,025A/G—likely benign
rs131447667820:44,658,028C/T—likely benign
rs208442482520:44,658,031C/T—likely benign
rs208442487720:44,658,033C/G—uncertain significance
rs139917167420:44,658,035G/A—uncertain significance
rs251562660920:44,658,044T/C—likely benign
rs121264412120:44,658,048C/T—likely benign
rs101058090920:44,658,050G/C—likely benign
rs286836420:44,658,296G/A—benign
rs1169948120:44,663,475T/C—benign
rs119560441220:44,663,571C/T—likely benign
rs214548159220:44,663,578C/A—likely benign
rs36799261020:44,663,584C/T—uncertain significance
rs208448377520:44,663,585A/G—likely pathogenic
rs251563148420:44,663,587G/A—uncertain significance
rs208448387120:44,663,598C/A—uncertain significance
rs251563150920:44,663,609C/T—likely benign
rs208448409020:44,663,620T/C—uncertain significance
rs14503380120:44,663,627C/T—likely benign
rs14396964120:44,663,630C/T—likely benign
rs53482623120:44,663,631G/A—uncertain significance
rs97062963320:44,663,642G/C—uncertain significance
rs251563159620:44,663,643G/C—uncertain significance
rs160059058020:44,663,649G/T—pathogenic
rs37652190320:44,663,650A/T—uncertain significance
rs75166444520:44,663,651G/A—likely benign
rs214548171020:44,663,658G/T—uncertain significance
rs128133119020:44,663,659G/A—uncertain significance
rs251563164620:44,663,677T/C—uncertain significance
rs208448486220:44,663,681G/A—uncertain significance
rs251563165620:44,663,682G/A—likely pathogenic
rs251563165920:44,663,689G/T—likely benign
rs214548173120:44,663,690C/T—likely benign
rs92657837120:44,663,695G/A—likely benign
rs147036484120:44,663,698G/A—likely benign
rs74574877820:44,663,699T/G—likely benign
rs75149486120:44,664,027C/G—conflicting classifications of pathogenicity
rs78090462620:44,664,030C/T—likely benign
rs251563232420:44,664,033C/T—likely benign
rs141362066920:44,664,035C/T—likely benign
rs19062800420:44,664,039A/G—likely benign
rs137623932920:44,664,066G/A—uncertain significance
rs74624595020:44,664,081C/T—likely benign
rs77124744520:44,664,087C/A—likely benign
rs214548218820:44,664,092C/T—uncertain significance
rs214548221720:44,664,102C/T—likely benign
rs76002161420:44,664,108G/T—likely benign
rs251563239020:44,664,114G/A—likely benign
rs77213477020:44,664,120T/C—likely benign
rs208448922020:44,664,126G/A—likely benign
rs7632042120:44,664,137C/T—uncertain significance
rs208448942120:44,664,147T/C—likely benign
rs37081258520:44,664,151G/A—uncertain significance
rs208448960320:44,664,154G/A—uncertain significance
rs76278149220:44,664,162G/C—uncertain significance
rs143691390420:44,664,167C/T—uncertain significance
rs18337786620:44,664,168G/A—likely benign
rs138482823420:44,664,170T/C—uncertain significance
rs14184896720:44,664,171G/C—likely benign
rs156885886720:44,664,175G/C—not provided
rs214548233220:44,664,182C/A—likely benign
rs36796456720:44,664,185C/T—likely benign
rs37370767620:44,664,186G/A—likely benign
rs286836520:44,664,213C/T—benign
rs374651520:44,664,371C/T—benign
rs214548270920:44,664,396G/C—likely benign
rs214548271220:44,664,397A/T—likely benign
rs95360732820:44,664,398T/C—likely benign
rs74624141420:44,664,400C/A—likely benign
rs251563298520:44,664,408C/G—likely benign
rs251563299320:44,664,410T/G—uncertain significance
rs208449306920:44,664,417C/A—uncertain significance

Showing 100 of 788 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.