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

Gene information from NCBI Gene. Variant classifications from ClinVar.