GCNT2

glucosaminyl (N-acetyl) transferase 2 (I blood group)

Summary

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants173 total

rsidPosition (GRCh37)AllelesClassClinVar
rs17604823326:10,509,365C/T—uncertain significance
rs7077946:10,519,890C/T——
rs5396646:10,523,375A/Tregulatory region variant—
rs5601946:10,528,794C/T—benign
rs6187056:10,529,014A/G—benign
rs5574416:10,529,087T/C—benign
rs799458596:10,529,119A/C—benign
rs1858057796:10,529,158G/A—pathogenic
rs776162616:10,529,449C/G—likely benign
rs7610836126:10,529,491C/T—uncertain significance
rs7751729936:10,529,569A/T—uncertain significance
rs1378533396:10,529,649G/Amissense variantpathogenic
rs7540605756:10,529,702T/G—uncertain significance
rs1502068426:10,529,711C/G—uncertain significance
rs8877989586:10,529,761A/G—uncertain significance
rs7718009346:10,529,784A/C—uncertain significance
rs1378533406:10,529,827G/Amissense variantpathogenic
rs7739683126:10,529,838G/A—uncertain significance
rs3738869786:10,529,873C/T—likely benign
rs1828496336:10,529,964G/A—likely benign
rs7800964466:10,529,990C/T—likely benign
rs7723607476:10,530,005C/G—likely benign
rs7718222416:10,530,006T/C—uncertain significance
rs1397949136:10,530,036G/A—likely benign
rs1494010386:10,530,173C/A—likely benign
rs623979696:10,530,236A/T—likely benign
rs92955746:10,531,244G/Aregulatory region variant—
rs8094796:10,533,463T/Cintron variant—
rs38924466:10,533,935T/Aregulatory region variant—
rs123865206:10,533,992C/Tregulatory region variant—
rs120555346:10,534,062A/C——
rs69114486:10,534,811G/Cregulatory region variant—
rs5092276:10,535,591A/Cregulatory region variant—
rs131951496:10,537,726A/Gintron variant—
rs69112256:10,538,394A/T——
rs77404376:10,555,888G/A—benign
rs126602746:10,555,982G/T—benign
rs7613614506:10,556,014G/A—uncertain significance
rs8860609016:10,556,108G/A—uncertain significance
rs9748746266:10,556,118C/T—uncertain significance
rs5606058156:10,556,128A/G—uncertain significance
rs5307931536:10,556,144C/T—uncertain significance
rs7782154746:10,556,207C/T—uncertain significance
rs17626813886:10,556,226C/G—uncertain significance
rs8860609026:10,556,277G/A—uncertain significance
rs5645176:10,556,339G/C—benign
rs12910799956:10,556,407G/A—uncertain significance
rs5454919176:10,556,426G/T—uncertain significance
rs5405720806:10,556,605A/T—uncertain significance
rs756482796:10,556,664T/C—benign
rs7714228926:10,556,752C/G—uncertain significance
rs17627124286:10,556,760G/A—uncertain significance
rs22309066:10,556,872C/T—benign
rs176377566:10,556,910C/G—conflicting classifications of pathogenicity
rs5690567076:10,556,959C/T—uncertain significance
rs355373336:10,556,986G/A—benign
rs9938861256:10,557,000T/C—uncertain significance
rs17627314506:10,557,045C/G—uncertain significance
rs7709407496:10,557,059A/G—uncertain significance
rs1423086246:10,557,098G/A—uncertain significance
rs11809737016:10,557,116A/G—uncertain significance
rs1470478906:10,557,132A/G—uncertain significance
rs5606374636:10,557,173A/G—benign
rs7647635246:10,557,209G/A—uncertain significance
rs7639883726:10,557,214C/T—likely benign
rs7571320086:10,557,228A/G—uncertain significance
rs15541299256:10,557,233T/G—uncertain significance
rs1483721936:10,557,286T/G—likely benign
rs25327309946:10,557,302G/A—uncertain significance
rs17627510286:10,557,327T/C—uncertain significance
rs353183466:10,557,343T/C—benign
rs2004271066:10,557,378A/G—uncertain significance
rs2008744376:10,557,397G/A—benign
rs1385936046:10,557,417A/G—uncertain significance
rs17627578526:10,557,425A/T—uncertain significance
rs11917859106:10,557,428A/G—uncertain significance
rs7738196126:10,557,472C/T—likely benign
rs9790529796:10,557,580G/A—uncertain significance
rs9195443826:10,557,588C/T—uncertain significance
rs5389181756:10,559,951G/A——
rs1166083046:10,585,851C/A—likely benign
rs1462125336:10,585,852G/A—likely benign
rs1112404536:10,585,980A/G—benign
rs5696936:10,586,006A/C—benign
rs1152195996:10,586,112G/A—likely benign
rs734349276:10,586,113G/A—benign
rs1393863176:10,586,300A/G—likely benign
rs25329023296:10,586,544G/A—uncertain significance
rs561063126:10,586,727G/Aregulatory region variantlikely benign
rs5944956:10,586,929A/G—benign
rs5393516:10,587,038C/G—benign
rs1378645426:10,587,044C/T—likely benign
rs715485086:10,587,056A/G—benign
rs1156330206:10,587,405C/T—likely benign
rs37987026:10,587,421G/A—benign
rs5429297356:10,599,395G/C——
rs558434006:10,609,445C/Tintron variant—
rs92956076:10,621,391A/G—likely benign
rs94609446:10,621,547C/T—benign
rs21274449576:10,621,658A/T—pathogenic

Showing 100 of 173 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.