SLC44A4

solute carrier family 44 member 4

Summary

The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Known Variants207 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7481555126:31,831,433G/A—uncertain significance
rs17626764796:31,831,439C/G—uncertain significance
rs1503852536:31,831,478T/C—conflicting classifications of pathogenicity
rs734021886:31,832,314G/A—benign
rs3752046986:31,832,418G/T—likely benign
rs7623124266:31,832,419T/C—likely benign
rs1468897316:31,832,445C/T—likely benign
rs13190715246:31,832,454A/G—likely benign
rs1397488326:31,832,458A/G—uncertain significance
rs3717519946:31,832,462C/T—uncertain significance
rs11696107786:31,832,463G/A—likely benign
rs7742540866:31,832,468C/T—uncertain significance
rs7739680836:31,832,480C/T—uncertain significance
rs7666514376:31,832,523A/G—uncertain significance
rs7597857286:31,832,529C/T—uncertain significance
rs7653440346:31,832,530G/A—likely benign
rs7727083126:31,832,580G/C—likely benign
rs2016719026:31,832,588C/A—likely benign
rs24814417806:31,832,614G/A—likely benign
rs1142409696:31,832,651G/A—uncertain significance
rs7546902016:31,832,653G/A—likely benign
rs7522845026:31,832,658G/A—uncertain significance
rs5481360816:31,832,666A/G—uncertain significance
rs7633574056:31,832,667A/G—uncertain significance
rs14288329856:31,832,685C/T—uncertain significance
rs7473506196:31,832,796C/T—uncertain significance
rs1453178936:31,832,833T/C—likely benign
rs1488544796:31,832,841T/C—uncertain significance
rs7700959276:31,832,850C/T—uncertain significance
rs2005976646:31,832,862G/C—likely benign
rs1996171826:31,833,072C/T—likely benign
rs1889722616:31,833,073G/A—likely benign
rs3755435936:31,833,074G/C—likely benign
rs1925898336:31,833,075G/A—likely benign
rs2019068096:31,833,076G/C—benign
rs1434760416:31,833,100G/A—benign
rs5473524906:31,833,153C/T—uncertain significance
rs1389649976:31,833,158A/G—uncertain significance
rs3735144176:31,833,162C/T—uncertain significance
rs13867725056:31,833,276A/G—uncertain significance
rs1162246096:31,833,278G/A—benign
rs5595230186:31,833,288T/C—conflicting classifications of pathogenicity
rs7631916406:31,833,312T/G—uncertain significance
rs7549453926:31,833,358G/A—uncertain significance
rs9398521596:31,833,360G/A—uncertain significance
rs7582343246:31,833,387G/A—likely benign
rs21515541556:31,833,394G/C—likely benign
rs561884166:31,833,453G/A—benign
rs7748535306:31,833,460G/C—likely benign
rs7482152986:31,833,503G/A—uncertain significance
rs344182076:31,833,504G/A—likely benign
rs10300886246:31,833,536C/T—uncertain significance
rs24814534556:31,833,569G/A—likely benign
rs7513899156:31,833,642A/G—likely benign
rs2016891476:31,833,650C/T—uncertain significance
rs69158006:31,833,660G/A—benign
rs2007964476:31,833,675T/A—uncertain significance
rs17628370926:31,833,678A/G—likely benign
rs1495918016:31,833,747C/T—uncertain significance
rs7653612456:31,833,853G/A—likely benign
rs3726632496:31,833,883C/T—likely benign
rs3755653726:31,833,918G/C—likely benign
rs49473326:31,834,197C/Tupstream gene variant—
rs5219776:31,836,827G/T—benign
rs7604977916:31,836,912T/C—likely benign
rs5634269366:31,836,933G/A—likely benign
rs24814756156:31,836,937G/A—uncertain significance
rs7653186716:31,836,974G/A—likely benign
rs1167066326:31,836,976G/A—benign
rs1462949806:31,836,994C/G—likely benign
rs7470257456:31,837,005T/A—uncertain significance
rs1171274936:31,837,009G/C—benign
rs3764545406:31,837,049A/C—benign
rs1913013546:31,837,052A/G—benign
rs119662006:31,837,066C/Tintron variantbenign
rs6605946:31,837,250G/A—benign
rs6605506:31,837,277C/A—benign
rs7551384196:31,837,306C/T—likely benign
rs12604452916:31,837,349C/T—uncertain significance
rs7680366606:31,837,420G/C—likely benign
rs3732240456:31,837,428A/G—likely benign
rs2000971236:31,837,462T/C—benign
rs5713386:31,837,491A/G—benign
rs44480846:31,837,503C/G—benign
rs283816396:31,837,774A/G——
rs14173689626:31,838,369C/T—likely benign
rs5670057096:31,838,373C/G—likely benign
rs24814882456:31,838,401G/A—uncertain significance
rs5493317906:31,838,413C/T—uncertain significance
rs7516327836:31,838,420G/A—uncertain significance
rs7560859616:31,838,426G/A—uncertain significance
rs7491336216:31,838,439C/T—likely benign
rs6448276:31,838,441T/Cmissense variantbenign
rs1398323556:31,838,466C/T—likely benign
rs1498240106:31,838,474C/T—uncertain significance
rs7714909556:31,838,475G/A—likely benign
rs6447746:31,838,490C/T—benign
rs7759860416:31,838,491G/A—likely benign
rs4935156:31,838,545G/A—benign
rs3711048096:31,838,580G/A—benign

Showing 100 of 207 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.