GBGT1
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)
Summary
This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs202004832 | 9:136,029,007 | C/T | — | uncertain significance |
| rs189095621 | 9:136,029,008 | G/A | — | uncertain significance |
| rs151100399 | 9:136,029,059 | C/T | — | uncertain significance |
| rs756144038 | 9:136,029,095 | A/C | — | uncertain significance |
| rs764362752 | 9:136,029,151 | T/C | — | uncertain significance |
| rs756020558 | 9:136,029,154 | G/A | — | uncertain significance |
| rs778295622 | 9:136,029,167 | T/C | — | uncertain significance |
| rs578065342 | 9:136,029,257 | C/A | — | uncertain significance |
| rs143947553 | 9:136,029,286 | T/C | — | uncertain significance |
| rs529154552 | 9:136,029,302 | G/A | — | uncertain significance |
| rs199834711 | 9:136,029,311 | C/T | — | likely benign |
| rs34691037 | 9:136,029,312 | G/A | — | benign |
| rs751467619 | 9:136,029,367 | G/A | — | uncertain significance |
| rs150021604 | 9:136,029,418 | C/T | — | uncertain significance |
| rs545204928 | 9:136,029,463 | C/T | — | uncertain significance |
| rs200869632 | 9:136,029,464 | G/A | — | uncertain significance |
| rs147921910 | 9:136,029,512 | T/C | — | uncertain significance |
| rs547647945 | 9:136,029,542 | C/T | — | likely benign |
| rs1452956294 | 9:136,029,557 | G/C | — | uncertain significance |
| rs200931814 | 9:136,029,586 | C/T | — | likely benign |
| rs764506322 | 9:136,029,592 | C/T | — | uncertain significance |
| rs962912980 | 9:136,029,644 | T/C | — | uncertain significance |
| rs375210338 | 9:136,030,572 | C/T | — | uncertain significance |
| rs138467094 | 9:136,030,592 | A/G | — | uncertain significance |
| rs117184386 | 9:136,030,716 | C/T | intron variant | — |
| rs117595304 | 9:136,031,315 | T/C | missense variant | — |
| rs374147391 | 9:136,031,409 | C/T | — | uncertain significance |
| rs34907858 | 9:136,031,814 | G/A | — | — |
| rs35200151 | 9:136,032,500 | A/G | intron variant | — |
| rs117387990 | 9:136,032,973 | G/A | intron variant | — |
| rs141083020 | 9:136,035,966 | G/C | intron variant | — |
| rs2490754243 | 9:136,036,878 | T/C | — | uncertain significance |
| rs766861272 | 9:136,036,908 | T/C | — | uncertain significance |
| rs140076798 | 9:136,037,793 | G/A | — | likely benign |
| rs190495275 | 9:136,038,517 | A/G | regulatory region variant | — |
| rs535015446 | 9:136,039,330 | G/A | — | — |
| rs34394935 | 9:136,040,150 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.