ALG13

ALG13 UDP-N-acetylglucosaminyltransferase subunit

Summary

The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

Known Variants904 total

rsidPosition (GRCh37)AllelesClassClinVar
rs201622950X:110,924,420G/A—likely benign
rs199642821X:110,924,433G/A—likely benign
rs374253660X:110,924,438A/G—likely benign
rs188487746X:110,924,440C/T—likely benign
rs904318687X:110,924,446C/T—uncertain significance
rs1380956380X:110,924,452G/A—likely benign
rs1245567722X:110,924,456G/A—uncertain significance
rs781450458X:110,924,458G/A—likely benign
rs199754211X:110,924,459T/C—likely benign
rs1446370125X:110,924,467C/T—likely benign
rs2147592883X:110,924,468G/C—uncertain significance
rs771955028X:110,924,473G/A—likely benign
rs2525005482X:110,924,476C/T—likely benign
rs2525005731X:110,924,479C/G—likely benign
rs2147593382X:110,924,481G/A—uncertain significance
rs1933034901X:110,924,482C/T—likely benign
rs200293248X:110,924,488C/A—likely benign
rs776133794X:110,924,489G/A—uncertain significance
rs1569508922X:110,924,496T/A—likely pathogenic
rs1406539581X:110,924,500G/A—likely benign
rs1057522579X:110,924,505T/C—uncertain significance
rs2147594318X:110,924,506G/A—likely benign
rs1602457991X:110,924,508C/T—uncertain significance
rs1933048489X:110,924,510G/A—uncertain significance
rs2525007462X:110,924,511C/A—uncertain significance
rs769287949X:110,924,512G/A—likely benign
rs775248745X:110,924,515C/G—likely benign
rs1057522540X:110,924,520G/A—uncertain significance
rs1404395085X:110,924,525C/G—likely benign
rs1452416283X:110,924,534G/A—likely benign
rs2147595118X:110,924,536G/T—likely benign
rs1342543630X:110,924,540G/A—likely benign
rs1279038398X:110,924,543G/A—likely benign
rs1170312484X:110,924,545G/A—likely benign
rs2525008929X:110,924,547A/C—likely benign
rs776511444X:110,924,635C/T—likely benign
rs199717765X:110,925,350C/T—benign
rs1933581297X:110,925,362A/G—uncertain significance
rs1933583293X:110,925,366G/C—uncertain significance
rs1009722243X:110,925,367A/C—uncertain significance
rs762337561X:110,925,370G/A—uncertain significance
rs149808406X:110,925,382A/G—likely benign
rs769838471X:110,925,386A/G—likely benign
rs1206750653X:110,925,392C/G—uncertain significance
rs2147624939X:110,925,398A/C—pathogenic
rs2147625157X:110,925,402G/A—uncertain significance
rs2525054132X:110,925,404T/A—likely benign
rs1057519175X:110,925,406G/A—uncertain significance
rs2525054281X:110,925,409G/A—likely pathogenic
rs1480398287X:110,925,413G/A—likely benign
rs766512298X:110,925,417G/A—conflicting classifications of pathogenicity
rs1461394942X:110,925,426C/T—uncertain significance
rs147897682X:110,925,428C/T—likely benign
rs2525055083X:110,925,434T/C—likely benign
rs1933618884X:110,925,437T/C—uncertain significance
rs1933620653X:110,925,442C/T—uncertain significance
rs1371475598X:110,925,443G/A—likely benign
rs765437651X:110,925,450C/T—likely benign
rs146925326X:110,925,461C/T—benign
rs2147626333X:110,925,469A/G—uncertain significance
rs2525055822X:110,925,475C/A—uncertain significance
rs745826764X:110,925,485A/C—uncertain significance
rs1933636414X:110,925,508T/C—uncertain significance
rs1064796372X:110,925,519G/A—uncertain significance
rs1556445122X:110,925,529G/T—likely benign
rs2525057060X:110,925,534T/C—likely benign
rs1933641836X:110,925,537G/C—likely benign
rs2525057341X:110,925,542T/G—likely benign
rs747784575X:110,928,173A/C—likely benign
rs1934554117X:110,928,176T/C—likely benign
rs773672059X:110,928,181T/G—likely benign
rs2525128119X:110,928,183A/G—likely benign
rs2525128347X:110,928,185A/G—likely benign
rs2525128427X:110,928,186T/C—likely benign
rs761270344X:110,928,189G/T—uncertain significance
rs1934561313X:110,928,194T/G—conflicting classifications of pathogenicity
rs771286138X:110,928,203C/T—likely benign
rs1934564084X:110,928,204T/A—uncertain significance
rs2525128992X:110,928,209G/A—likely benign
rs2525129271X:110,928,216C/T—likely benign
rs1057522348X:110,928,221A/G—likely benign
rs777184147X:110,928,222A/G—likely benign
rs867599353X:110,928,228A/Gmissense variantpathogenic
rs2147692312X:110,928,232C/T—uncertain significance
rs1934570209X:110,928,234C/T—uncertain significance
rs369867857X:110,928,236C/T—likely benign
rs1316426424X:110,928,242G/T—likely benign
rs2525130608X:110,928,246A/G—uncertain significance
rs763113044X:110,928,251C/T—likely benign
rs2525130864X:110,928,253A/T—uncertain significance
rs2525131213X:110,928,260G/C—uncertain significance
rs2525131302X:110,928,262T/C—uncertain significance
rs398122394X:110,928,268A/Gmissense variantpathogenic
rs748812688X:110,928,269T/G—uncertain significance
rs1602495506X:110,928,275G/A—likely benign
rs185437341X:110,928,282C/T—likely benign
rs1057521748X:110,928,285G/A—uncertain significance
rs397514587X:110,928,287A/Gsynonymous variant—
rs2525132731X:110,928,292A/G—uncertain significance
rs1602495633X:110,928,294C/T—likely benign

Showing 100 of 904 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.