A4GNT
alpha-1,4-N-acetylglucosaminyltransferase
Summary
This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs774383385 | 3:137,843,237 | G/A | — | uncertain significance |
| rs745937519 | 3:137,843,239 | C/T | — | uncertain significance |
| rs570351376 | 3:137,843,320 | C/T | — | uncertain significance |
| rs113881039 | 3:137,843,333 | G/A | — | likely benign |
| rs2472917016 | 3:137,843,361 | G/T | — | uncertain significance |
| rs889333352 | 3:137,843,433 | C/A | — | uncertain significance |
| rs2472917340 | 3:137,843,436 | C/T | — | uncertain significance |
| rs748428271 | 3:137,843,472 | A/C | — | uncertain significance |
| rs146992672 | 3:137,843,487 | G/T | — | likely benign |
| rs137971144 | 3:137,843,524 | G/A | — | uncertain significance |
| rs2042734955 | 3:137,843,555 | T/C | — | uncertain significance |
| rs749679186 | 3:137,843,566 | C/T | — | likely benign |
| rs376988607 | 3:137,843,567 | G/A | — | uncertain significance |
| rs376190351 | 3:137,843,669 | G/A | — | uncertain significance |
| rs192933076 | 3:137,843,708 | C/G | — | uncertain significance |
| rs142128158 | 3:137,849,702 | A/G | — | uncertain significance |
| rs150885526 | 3:137,849,765 | C/T | — | uncertain significance |
| rs2472928278 | 3:137,849,794 | T/A | — | uncertain significance |
| rs2472928301 | 3:137,849,807 | A/G | — | likely benign |
| rs2472928924 | 3:137,849,988 | C/A | — | uncertain significance |
| rs1445040771 | 3:137,850,037 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.