FUT1
fucosyltransferase 1 (H blood group)
Summary
This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs838143 | 19:49,251,755 | G/C | — | — |
| rs838142 | 19:49,252,151 | A/G | upstream gene variant | — |
| rs146216905 | 19:49,253,517 | G/A | — | uncertain significance |
| rs104894686 | 19:49,253,591 | G/C | stop gained | affects |
| rs2514048404 | 19:49,253,600 | C/A | — | uncertain significance |
| rs104894688 | 19:49,253,713 | G/A | stop gained | pathogenic |
| rs838138 | 19:49,253,717 | G/T | — | benign |
| rs28934588 | 19:49,253,814 | A/C | missense variant | pathogenic |
| rs775020226 | 19:49,253,911 | G/T | — | uncertain significance |
| rs760165583 | 19:49,253,913 | T/G | — | uncertain significance |
| rs762860495 | 19:49,253,923 | G/A | — | uncertain significance |
| rs1568490603 | 19:49,253,931 | C/T | — | uncertain significance |
| rs572327966 | 19:49,253,932 | G/A | — | uncertain significance |
| rs1284994775 | 19:49,253,994 | C/T | — | uncertain significance |
| rs104894687 | 19:49,254,048 | A/T | missense variant | pathogenic |
| rs769428653 | 19:49,254,114 | C/T | — | likely benign |
| rs201562036 | 19:49,254,121 | G/A | — | uncertain significance |
| rs762089317 | 19:49,254,128 | G/T | — | uncertain significance |
| rs765289129 | 19:49,254,137 | T/G | — | uncertain significance |
| rs780921182 | 19:49,254,167 | G/C | — | uncertain significance |
| rs2514049639 | 19:49,254,169 | A/G | — | uncertain significance |
| rs765444091 | 19:49,254,173 | C/T | — | likely benign |
| rs150074056 | 19:49,254,190 | G/A | missense variant | pathogenic |
| rs775322530 | 19:49,254,205 | T/C | — | uncertain significance |
| rs1278016251 | 19:49,254,251 | A/G | — | likely benign |
| rs753159303 | 19:49,254,262 | T/C | — | uncertain significance |
| rs777598537 | 19:49,254,276 | C/T | — | uncertain significance |
| rs756804043 | 19:49,254,286 | G/C | — | uncertain significance |
| rs144689580 | 19:49,254,343 | C/G | — | uncertain significance |
| rs2514050161 | 19:49,254,372 | C/G | — | uncertain significance |
| rs200808269 | 19:49,254,438 | T/C | — | uncertain significance |
| rs141677918 | 19:49,254,482 | G/C | — | benign |
| rs2071699 | 19:49,254,504 | G/A | missense variant | likely benign |
| rs150995632 | 19:49,254,519 | C/T | — | uncertain significance |
| rs529619330 | 19:49,255,294 | C/G | — | — |
| rs1698114 | 19:49,259,854 | A/C | — | — |
| rs1698113 | 19:49,259,856 | T/C | upstream gene variant | — |
| rs183960568 | 19:49,260,146 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.