ST3GAL5

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Summary

Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants378 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5733967242:86,066,266C/T—uncertain significance
rs7753572142:86,066,291C/A—uncertain significance
rs8860563862:86,066,317C/T—uncertain significance
rs7618924962:86,066,323G/A—uncertain significance
rs7733338312:86,066,511C/T—uncertain significance
rs1888076042:86,066,589G/A—uncertain significance
rs16817542582:86,066,618G/A—uncertain significance
rs8860563872:86,066,658C/G—uncertain significance
rs5351143852:86,066,660G/A—uncertain significance
rs1164568902:86,066,673C/T—benign
rs1155441782:86,066,785C/T—benign
rs8860563882:86,066,812C/T—uncertain significance
rs7531919652:86,066,835C/T—uncertain significance
rs1123729632:86,066,852A/G—uncertain significance
rs7772077552:86,066,855G/A—uncertain significance
rs8860563892:86,066,904T/G—uncertain significance
rs5734089032:86,066,912C/T—uncertain significance
rs16817909082:86,066,923G/A—uncertain significance
rs8860563902:86,066,944G/C—uncertain significance
rs1124755382:86,067,007C/T—uncertain significance
rs10172069452:86,067,120G/A—uncertain significance
rs5312290462:86,067,127T/A—uncertain significance
rs1930778132:86,067,152G/A—likely benign
rs8860563912:86,067,198T/C—uncertain significance
rs16818350242:86,067,269A/G—pathogenic
rs21045831422:86,067,276A/G—likely benign
rs2006839242:86,067,277C/A—conflicting classifications of pathogenicity
rs7687277342:86,067,278G/A—uncertain significance
rs16818377892:86,067,280T/A—uncertain significance
rs12877813042:86,067,295A/G—uncertain significance
rs1481958952:86,067,312C/T—conflicting classifications of pathogenicity
rs24670171812:86,067,318G/C—likely benign
rs14240047272:86,067,320C/T—uncertain significance
rs7653096752:86,067,321C/T—likely benign
rs9504956322:86,067,329A/G—likely benign
rs13723345942:86,067,330G/A—likely benign
rs7576853462:86,067,345C/T—likely benign
rs1842272712:86,067,346G/A—uncertain significance
rs12290665242:86,067,354A/G—likely benign
rs1401512862:86,067,359G/C—conflicting classifications of pathogenicity
rs9504723182:86,067,360C/T—uncertain significance
rs7558001742:86,067,361A/G—uncertain significance
rs7491188392:86,067,381A/G—likely benign
rs21045839352:86,067,390T/C—likely benign
rs7481738592:86,067,395T/C—conflicting classifications of pathogenicity
rs1473058932:86,067,398C/T—uncertain significance
rs21045841012:86,067,407G/A—uncertain significance
rs24670181102:86,067,414T/C—likely benign
rs3677601782:86,067,415G/A—uncertain significance
rs7458780942:86,067,419T/C—uncertain significance
rs24670182202:86,067,423T/C—likely benign
rs16818623982:86,067,427T/C—uncertain significance
rs14347140042:86,067,428T/C—uncertain significance
rs7756472322:86,067,431G/C—uncertain significance
rs13130870282:86,067,445C/T—uncertain significance
rs3705360812:86,067,447C/T—likely benign
rs2014250152:86,067,448G/A—uncertain significance
rs5344383542:86,067,461C/Tmissense variantpathogenic
rs7499667292:86,067,464C/T—uncertain significance
rs1498016732:86,067,465G/A—conflicting classifications of pathogenicity
rs14257951012:86,067,480T/A—uncertain significance
rs16818719082:86,067,484A/G—uncertain significance
rs1457382252:86,067,488C/T—conflicting classifications of pathogenicity
rs3749419832:86,067,489G/A—likely benign
rs3676386482:86,067,500C/T—pathogenic
rs7478292872:86,067,501G/A—likely benign
rs7583685522:86,067,512C/T—conflicting classifications of pathogenicity
rs7775220382:86,067,513G/A—likely benign
rs24670190972:86,067,519A/C—likely benign
rs7459882522:86,067,522A/C—likely benign
rs21045848312:86,067,525G/A—likely benign
rs16818794052:86,067,526G/A—likely benign
rs24670192512:86,067,532A/G—likely benign
rs13282156162:86,067,533A/C—likely benign
rs12825600092:86,067,534G/C—likely benign
rs22803162:86,071,393G/C—benign
rs24670447992:86,071,503G/A—likely benign
rs24670448182:86,071,504T/C—likely benign
rs7626406502:86,071,510C/T—likely benign
rs15735806522:86,071,511A/T—likely benign
rs16825104722:86,071,513A/C—uncertain significance
rs7638500932:86,071,518C/T—pathogenic
rs7513635522:86,071,522A/G—likely benign
rs11928219832:86,071,524C/G—uncertain significance
rs7571937452:86,071,526C/T—uncertain significance
rs2005411022:86,071,527G/A—pathogenic
rs24670450672:86,071,528G/A—likely benign
rs21039351202:86,071,530C/T—uncertain significance
rs15735808422:86,071,543C/A—uncertain significance
rs1465426932:86,071,554A/C—uncertain significance
rs13958182452:86,071,564G/C—uncertain significance
rs7473189092:86,071,570A/C—conflicting classifications of pathogenicity
rs12826181572:86,071,573G/C—likely benign
rs7715873932:86,071,576A/G—likely benign
rs16825237222:86,071,591A/T—likely benign
rs3724672202:86,071,604A/G—uncertain significance
rs14443252542:86,071,605T/C—uncertain significance
rs21039358072:86,071,618T/C—likely benign
rs7615487482:86,071,664C/T—uncertain significance
rs1048936682:86,071,665G/Astop gainedpathogenic

Showing 100 of 378 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.