GLT6D1
glycosyltransferase 6 domain containing 1
Summary
The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2490704452 | 9:138,515,992 | G/C | — | uncertain significance |
| rs748614228 | 9:138,516,028 | C/G | — | uncertain significance |
| rs201867801 | 9:138,516,047 | T/C | — | uncertain significance |
| rs200191998 | 9:138,516,082 | A/G | — | uncertain significance |
| rs370842340 | 9:138,516,139 | G/A | — | uncertain significance |
| rs190884433 | 9:138,516,208 | G/C | — | uncertain significance |
| rs1457488394 | 9:138,516,219 | C/G | — | uncertain significance |
| rs199778658 | 9:138,516,289 | A/G | — | uncertain significance |
| rs748324395 | 9:138,516,315 | G/C | — | uncertain significance |
| rs772084545 | 9:138,516,320 | T/C | — | uncertain significance |
| rs201060314 | 9:138,516,358 | G/A | — | uncertain significance |
| rs779972331 | 9:138,516,380 | A/C | — | uncertain significance |
| rs138281407 | 9:138,516,385 | C/T | — | uncertain significance |
| rs374930803 | 9:138,516,401 | C/G | — | likely benign |
| rs199518158 | 9:138,516,499 | A/G | — | uncertain significance |
| rs756214711 | 9:138,517,922 | T/C | — | uncertain significance |
| rs758377421 | 9:138,517,940 | C/T | — | uncertain significance |
| rs756944725 | 9:138,517,954 | C/T | — | likely benign |
| rs749827805 | 9:138,517,963 | T/C | — | uncertain significance |
| rs371280419 | 9:138,517,988 | C/T | — | uncertain significance |
| rs528087693 | 9:138,518,009 | C/T | — | likely benign |
| rs1271906755 | 9:138,518,014 | G/A | — | uncertain significance |
| rs202181415 | 9:138,518,015 | C/T | — | uncertain significance |
| rs188950350 | 9:138,518,023 | T/C | — | uncertain significance |
| rs556089591 | 9:138,520,156 | C/T | — | — |
| rs1537415 | 9:138,529,722 | G/C | intron variant | — |
| rs1317716842 | 9:138,530,988 | G/C | — | uncertain significance |
| rs191047653 | 9:138,531,015 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.