CSGALNACT2

chondroitin sulfate N-acetylgalactosaminyltransferase 2

Summary

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]

Known Variants37 total

rsidPosition (GRCh37)AllelesClassClinVar
rs243534910:43,643,466A/Gintron variant
rs250550710:43,644,824C/G
rs77401720710:43,650,622C/Guncertain significance
rs75213193410:43,650,629G/Auncertain significance
rs20137840910:43,650,737T/Guncertain significance
rs76337684010:43,650,826C/Tuncertain significance
rs15004816410:43,650,878G/Auncertain significance
rs183898577410:43,651,015C/Tuncertain significance
rs20185303710:43,651,091G/Auncertain significance
rs13863110910:43,651,148T/Cuncertain significance
rs76012138510:43,651,154C/Tuncertain significance
rs133306435710:43,651,166T/Auncertain significance
rs75253777010:43,651,177C/Tuncertain significance
rs19987453610:43,651,204G/Cuncertain significance
rs75315819410:43,651,208A/Cuncertain significance
rs37440957110:43,654,181G/Auncertain significance
rs253873189510:43,654,184A/Cuncertain significance
rs36833394910:43,654,185T/Guncertain significance
rs96489332310:43,654,204C/Guncertain significance
rs123264894210:43,654,254C/Guncertain significance
rs76799455310:43,654,256G/Auncertain significance
rs78015665710:43,654,292T/Guncertain significance
rs36790206010:43,654,295T/Cuncertain significance
rs117335006710:43,654,312A/Glikely benign
rs77792017610:43,656,019A/Tuncertain significance
rs77490375410:43,659,319C/Tuncertain significance
rs76014049110:43,659,321A/Guncertain significance
rs75280160810:43,659,475G/Auncertain significance
rs14609264410:43,662,491A/Guncertain significance
rs14000299410:43,662,499A/Guncertain significance
rs14600385710:43,670,930C/Tintron variant
rs183947418510:43,671,427G/Auncertain significance
rs78103422210:43,678,764A/Guncertain significance
rs118908408310:43,678,784C/Tuncertain significance
rs253877131810:43,678,816G/Tuncertain significance
rs14426087110:43,678,860G/Auncertain significance
rs37630179210:43,678,869T/Cuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.