SGMS2

sphingomyelin synthase 2

Summary

Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]

Known Variants104 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5597027074:108,765,275G/A——
rs11725613794:108,816,710A/G—uncertain significance
rs17305948534:108,816,720T/C—uncertain significance
rs24767212284:108,816,726C/T—uncertain significance
rs7696086014:108,816,728G/C—uncertain significance
rs17305962124:108,816,729C/A—uncertain significance
rs17305976064:108,816,759C/T—uncertain significance
rs7629133254:108,816,762G/A—conflicting classifications of pathogenicity
rs170382044:108,816,771C/T—benign
rs5650281614:108,816,772G/A—likely benign
rs5304070884:108,816,778T/G—benign
rs7530981074:108,816,790C/T—likely benign
rs7565495314:108,816,791G/A—uncertain significance
rs9129784774:108,816,825A/G—uncertain significance
rs17306042464:108,816,828G/A—uncertain significance
rs24767235284:108,816,832A/G—uncertain significance
rs15606673894:108,816,857C/T—pathogenic
rs7465231184:108,816,858G/A—uncertain significance
rs7546175884:108,816,867C/A—uncertain significance
rs3680610544:108,816,868C/T—likely benign
rs1427470024:108,816,870A/G—likely benign
rs21261222284:108,816,876A/T—uncertain significance
rs3732937064:108,816,879C/T—uncertain significance
rs1507840824:108,816,880G/A—likely benign
rs24767249434:108,816,881G/C—uncertain significance
rs15606675124:108,816,894T/G—pathogenic
rs15606675214:108,816,900T/G—pathogenic
rs24767259704:108,816,941A/G—uncertain significance
rs14457311254:108,816,965G/A—uncertain significance
rs7545359844:108,816,979C/T—likely benign
rs1476622244:108,816,980G/T—uncertain significance
rs7490417524:108,816,991C/T—likely benign
rs1406623674:108,816,992G/A—uncertain significance
rs24767273084:108,816,994C/T—likely benign
rs7754524364:108,817,025C/T—uncertain significance
rs12249771244:108,817,053A/G—uncertain significance
rs7687619674:108,817,070A/G—uncertain significance
rs1391362674:108,817,114G/A—benign
rs7521645034:108,817,120A/G—uncertain significance
rs2017478774:108,817,132A/G—likely benign
rs24767308804:108,817,176T/C—likely benign
rs1114870804:108,817,178A/C—benign
rs24767618934:108,820,712T/A—likely benign
rs7601624944:108,820,740G/A—likely benign
rs5713132144:108,820,745G/A—uncertain significance
rs13594894664:108,820,783C/T—uncertain significance
rs5345457524:108,820,789A/G—uncertain significance
rs7497202604:108,820,818G/T—likely benign
rs13852062334:108,820,830T/C—likely benign
rs1503405324:108,820,833C/T—likely benign
rs7762932374:108,820,848G/T—uncertain significance
rs21261320104:108,820,855A/G—likely benign
rs131200154:108,824,239G/A—benign
rs99986754:108,824,329G/C—benign
rs1999847954:108,824,381T/A—benign
rs1464638114:108,824,394T/C—likely benign
rs3776074244:108,824,396G/A—uncertain significance
rs24767816204:108,824,413G/C—uncertain significance
rs5347000674:108,824,420G/A—uncertain significance
rs12072661324:108,824,452T/C—uncertain significance
rs14804911314:108,824,456T/C—uncertain significance
rs7675107214:108,824,459C/G—uncertain significance
rs7778606374:108,824,473T/A—uncertain significance
rs7463077324:108,824,497G/A—uncertain significance
rs7807533234:108,824,498G/A—uncertain significance
rs24767823404:108,824,502C/T—likely benign
rs7476277094:108,824,505G/A—likely benign
rs3739770064:108,824,510C/T—likely benign
rs99988504:108,824,511G/A—benign
rs340193214:108,824,517A/G—likely benign
rs9798165874:108,824,536A/G—uncertain significance
rs7606270624:108,824,554C/T—likely benign
rs1891780514:108,824,561C/T—likely benign
rs175639074:108,824,655A/G—benign
rs100211124:108,824,667A/G—benign
rs117240204:108,829,516C/T—benign
rs7741050194:108,829,712A/G—likely benign
rs7592223514:108,829,724C/T—uncertain significance
rs7718045824:108,829,725G/A—likely benign
rs1999811484:108,829,730G/A—uncertain significance
rs7538464304:108,829,734C/T—likely benign
rs7619989054:108,829,735T/C—uncertain significance
rs24768145124:108,829,771G/A—uncertain significance
rs343501554:108,829,776C/T—likely benign
rs7555407194:108,829,777G/A—uncertain significance
rs11821890654:108,829,803C/T—likely benign
rs5565979384:108,829,804G/C—uncertain significance
rs7454654094:108,829,818C/T—likely benign
rs7752607954:108,829,826T/A—uncertain significance
rs7653085054:108,829,874T/C—uncertain significance
rs24768153314:108,829,888G/T—uncertain significance
rs12052630534:108,829,890G/A—uncertain significance
rs11814868034:108,831,521T/C—uncertain significance
rs24768442054:108,831,540C/T—uncertain significance
rs5465590914:108,831,545G/A—uncertain significance
rs24768444924:108,831,559C/T—likely benign
rs345769754:108,831,619G/A—benign
rs7579399154:108,831,628G/C—uncertain significance
rs7545977404:108,831,630C/T—uncertain significance
rs7697615284:108,831,649A/C—likely benign

Showing 100 of 104 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.