GCNT1
glucosaminyl (N-acetyl) transferase 1
Summary
This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150237391 | 9:79,099,910 | G/T | — | — |
| rs785914 | 9:79,100,795 | T/C | intron variant | — |
| rs755319625 | 9:79,103,296 | G/T | — | — |
| rs503222 | 9:79,104,807 | T/A | — | — |
| rs602075 | 9:79,110,160 | A/C | — | — |
| rs761863720 | 9:79,117,317 | G/A | — | uncertain significance |
| rs1004307391 | 9:79,117,340 | A/C | — | uncertain significance |
| rs369681886 | 9:79,117,388 | G/A | — | uncertain significance |
| rs745466671 | 9:79,117,424 | G/T | — | uncertain significance |
| rs777094451 | 9:79,117,461 | G/A | — | uncertain significance |
| rs765254028 | 9:79,117,481 | G/A | — | likely benign |
| rs765258031 | 9:79,117,616 | C/T | — | uncertain significance |
| rs1002846487 | 9:79,117,658 | T/C | — | uncertain significance |
| rs770875325 | 9:79,117,676 | A/C | — | uncertain significance |
| rs759615039 | 9:79,117,685 | C/A | — | uncertain significance |
| rs1183894792 | 9:79,117,835 | A/C | — | uncertain significance |
| rs1192850646 | 9:79,117,851 | T/C | — | uncertain significance |
| rs149948942 | 9:79,117,871 | C/T | — | uncertain significance |
| rs780219492 | 9:79,117,964 | A/G | — | uncertain significance |
| rs148923569 | 9:79,118,000 | T/C | — | benign |
| rs41288759 | 9:79,118,092 | G/A | — | likely benign |
| rs1825143477 | 9:79,118,322 | A/G | — | uncertain significance |
| rs147866228 | 9:79,118,400 | C/T | missense variant | — |
| rs760020490 | 9:79,118,412 | G/A | — | uncertain significance |
| rs2537762740 | 9:79,118,456 | G/A | — | uncertain significance |
| rs777449301 | 9:79,118,465 | T/C | — | uncertain significance |
| rs1367800909 | 9:79,118,510 | G/T | — | uncertain significance |
| rs750711164 | 9:79,118,546 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.