SGMS1

sphingomyelin synthase 1

Summary

The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]

Known Variants32 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37303747910:52,067,858C/Tuncertain significance
rs14793939910:52,067,899C/Tuncertain significance
rs105074863410:52,071,091T/Auncertain significance
rs18660030310:52,083,115G/Aintron variant
rs53200786310:52,092,444A/G
rs14551934210:52,101,346T/Cintron variant
rs14188501610:52,103,414G/Auncertain significance
rs136263529810:52,103,495T/Guncertain significance
rs20124323010:52,103,564G/Cuncertain significance
rs76083206110:52,103,610C/Auncertain significance
rs184786739610:52,103,688T/Guncertain significance
rs77482683610:52,103,723C/Tuncertain significance
rs37246126510:52,103,814T/Cuncertain significance
rs18277968310:52,108,007T/Cintron variant
rs1076336610:52,117,965A/C
rs257497510:52,119,297T/A
rs136986010:52,123,579A/Gintron variant
rs268887910:52,133,698T/G
rs56288004810:52,146,344A/G
rs706911510:52,175,939T/Cintron variant
rs5623131010:52,183,064T/A
rs19125090510:52,191,884C/Tregulatory region variant
rs1225151410:52,259,794A/Cintron variant
rs18954272110:52,298,093C/Tintron variant
rs792122610:52,336,656A/Tregulatory region variant
rs1100619010:52,338,020C/Tregulatory region variant
rs1100619110:52,338,271A/Gintron variant
rs1100619310:52,338,346G/Aintron variant
rs1100619410:52,338,624T/Cintron variant
rs1100621310:52,343,093G/T
rs1100623710:52,352,177C/Aupstream gene variant
rs7982883910:52,352,431C/Tupstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.