GALNT5
polypeptide N-acetylgalactosaminyltransferase 5
Summary
The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77149268 | 2:158,113,579 | C/T | regulatory region variant | — |
| rs545992512 | 2:158,114,620 | G/A | — | uncertain significance |
| rs1320321904 | 2:158,114,688 | G/A | — | uncertain significance |
| rs201125505 | 2:158,114,694 | C/T | — | uncertain significance |
| rs200493493 | 2:158,114,755 | G/A | — | likely benign |
| rs775560997 | 2:158,114,791 | T/G | — | uncertain significance |
| rs781374233 | 2:158,114,838 | G/C | — | uncertain significance |
| rs1392054783 | 2:158,114,895 | G/C | — | uncertain significance |
| rs752142670 | 2:158,114,917 | C/A | — | uncertain significance |
| rs756540549 | 2:158,114,949 | G/C | — | uncertain significance |
| rs757434719 | 2:158,114,967 | C/T | — | uncertain significance |
| rs557180693 | 2:158,115,052 | C/T | — | uncertain significance |
| rs1682251698 | 2:158,115,064 | A/G | — | uncertain significance |
| rs375064571 | 2:158,115,072 | C/T | — | uncertain significance |
| rs2467981125 | 2:158,115,080 | A/C | — | uncertain significance |
| rs2467981167 | 2:158,115,088 | C/T | — | uncertain significance |
| rs1300098154 | 2:158,115,099 | C/G | — | uncertain significance |
| rs570752331 | 2:158,115,144 | A/G | — | uncertain significance |
| rs540292162 | 2:158,115,183 | C/G | — | likely benign |
| rs771512905 | 2:158,115,186 | C/T | — | uncertain significance |
| rs2105138678 | 2:158,115,308 | G/C | — | uncertain significance |
| rs371803810 | 2:158,115,363 | A/C | — | uncertain significance |
| rs757149965 | 2:158,115,373 | C/T | — | uncertain significance |
| rs376454596 | 2:158,115,432 | A/C | — | uncertain significance |
| rs139242828 | 2:158,115,454 | G/A | — | likely benign |
| rs142592488 | 2:158,115,489 | G/A | — | uncertain significance |
| rs769946518 | 2:158,115,529 | G/A | — | uncertain significance |
| rs895063247 | 2:158,115,620 | A/C | — | uncertain significance |
| rs146451636 | 2:158,115,693 | T/A | — | uncertain significance |
| rs148659459 | 2:158,115,754 | G/A | — | uncertain significance |
| rs1412788028 | 2:158,115,792 | G/A | — | uncertain significance |
| rs1268514394 | 2:158,115,871 | T/C | — | uncertain significance |
| rs140478877 | 2:158,115,921 | C/T | — | uncertain significance |
| rs150434278 | 2:158,115,922 | G/A | — | uncertain significance |
| rs2467984437 | 2:158,115,934 | T/A | — | uncertain significance |
| rs550649517 | 2:158,115,996 | C/T | — | uncertain significance |
| rs1682290960 | 2:158,116,014 | G/A | — | uncertain significance |
| rs139539481 | 2:158,140,802 | A/G | — | uncertain significance |
| rs2468027047 | 2:158,140,873 | C/A | — | uncertain significance |
| rs779011189 | 2:158,140,901 | A/G | — | uncertain significance |
| rs747978590 | 2:158,140,918 | C/T | — | uncertain significance |
| rs759099839 | 2:158,140,953 | C/G | — | uncertain significance |
| rs142828403 | 2:158,142,557 | T/C | — | uncertain significance |
| rs202106852 | 2:158,142,587 | G/A | — | likely benign |
| rs2468041942 | 2:158,152,250 | A/G | — | uncertain significance |
| rs369420643 | 2:158,152,263 | G/C | — | uncertain significance |
| rs184668487 | 2:158,152,916 | G/A | — | uncertain significance |
| rs79766504 | 2:158,152,917 | T/C | missense variant | — |
| rs770861717 | 2:158,152,985 | G/A | — | uncertain significance |
| rs371179557 | 2:158,156,077 | G/T | — | uncertain significance |
| rs141100838 | 2:158,156,167 | T/G | — | uncertain significance |
| rs372133363 | 2:158,157,231 | G/C | — | uncertain significance |
| rs201227260 | 2:158,157,320 | G/A | — | uncertain significance |
| rs183831329 | 2:158,157,367 | C/A | — | uncertain significance |
| rs148260459 | 2:158,157,377 | G/A | — | uncertain significance |
| rs2468049050 | 2:158,157,414 | G/A | — | uncertain significance |
| rs139651880 | 2:158,157,438 | G/A | — | uncertain significance |
| rs763038987 | 2:158,157,491 | A/G | — | uncertain significance |
| rs2353292 | 2:158,158,514 | C/T | upstream gene variant | — |
| rs2468054844 | 2:158,162,279 | G/A | — | uncertain significance |
| rs867782017 | 2:158,165,102 | G/T | — | uncertain significance |
| rs1683502015 | 2:158,165,108 | A/T | — | uncertain significance |
| rs201888845 | 2:158,165,124 | G/A | — | uncertain significance |
| rs2468058743 | 2:158,165,200 | A/G | — | uncertain significance |
| rs143599667 | 2:158,165,232 | C/T | — | likely benign |
| rs1485757716 | 2:158,167,726 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.