FUT2
fucosyltransferase 2 (H blood group)
Summary
This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. The encoded protein is important for the final step in the soluble ABO blood group antigen synthesis pathway. It is also involved in cell-cell interaction, cell surface expression, and cell proliferation. Mutations in this gene are a cause of the H-Bombay blood group where red blood cells lack the H antigen. [provided by RefSeq, May 2022]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs838133 | 19:48,703,417 | G/A | intergenic variant | — |
| rs71370197 | 19:49,204,592 | C/A | — | — |
| rs679574 | 19:49,206,108 | C/G | intron variant | — |
| rs516316 | 19:49,206,145 | G/C | intron variant | — |
| rs516246 | 19:49,206,172 | C/G | — | — |
| rs774871775 | 19:49,206,223 | G/A | — | likely benign |
| rs753899420 | 19:49,206,278 | T/C | — | likely benign |
| rs1800021 | 19:49,206,286 | A/G | — | benign |
| rs776016342 | 19:49,206,305 | G/A | — | uncertain significance |
| rs492602 | 19:49,206,417 | A/G | synonymous variant | — |
| rs374416675 | 19:49,206,425 | G/A | — | uncertain significance |
| rs748750933 | 19:49,206,455 | C/T | — | uncertain significance |
| rs770523746 | 19:49,206,456 | A/G | — | likely benign |
| rs1374814195 | 19:49,206,460 | T/C | — | uncertain significance |
| rs681343 | 19:49,206,462 | T/C | — | confers sensitivity |
| rs748840898 | 19:49,206,510 | G/A | — | uncertain significance |
| rs149356814 | 19:49,206,524 | C/T | — | confers sensitivity |
| rs200157007 | 19:49,206,548 | C/T | — | confers sensitivity |
| rs28362836 | 19:49,206,561 | C/T | — | benign |
| rs760999180 | 19:49,206,566 | C/T | — | uncertain significance |
| rs281377 | 19:49,206,603 | C/T | synonymous variant | benign |
| rs1800026 | 19:49,206,621 | A/G | — | benign |
| rs1800022 | 19:49,206,625 | T/C | — | confers sensitivity |
| rs775671771 | 19:49,206,626 | G/A | — | uncertain significance |
| rs1047781 | 19:49,206,631 | A/T | missense variant | benign |
| rs2513961617 | 19:49,206,644 | A/T | — | uncertain significance |
| rs747849767 | 19:49,206,657 | C/G | — | likely benign |
| rs601338 | 19:49,206,674 | G/A | stop gained | association |
| rs754702347 | 19:49,206,730 | C/T | — | uncertain significance |
| rs370762118 | 19:49,206,736 | C/T | — | uncertain significance |
| rs367923363 | 19:49,206,800 | T/G | — | uncertain significance |
| rs1800028 | 19:49,206,817 | C/T | stop gained | pathogenic |
| rs141719385 | 19:49,206,872 | G/A | — | uncertain significance |
| rs754105698 | 19:49,206,957 | G/C | — | uncertain significance |
| rs746552156 | 19:49,206,971 | T/C | — | uncertain significance |
| rs373029662 | 19:49,206,975 | C/T | — | likely benign |
| rs602662 | 19:49,206,985 | G/A | missense variant | confers sensitivity |
| rs371279676 | 19:49,207,064 | C/G | — | uncertain significance |
| rs2513962267 | 19:49,207,066 | A/G | — | likely benign |
| rs1800030 | 19:49,207,095 | G/A | — | benign |
| rs1406380167 | 19:49,207,136 | A/G | — | uncertain significance |
| rs928595878 | 19:49,207,184 | C/T | — | uncertain significance |
| rs485186 | 19:49,207,206 | A/G | — | confers sensitivity |
| rs1441670296 | 19:49,207,207 | G/C | — | uncertain significance |
| rs373779096 | 19:49,207,216 | G/A | — | uncertain significance |
| rs603985 | 19:49,207,257 | T/C | 3 prime UTR variant | — |
| rs571689 | 19:49,207,554 | C/T | 3 prime UTR variant | — |
| rs570794 | 19:49,207,651 | T/C | 3 prime UTR variant | — |
| rs569970 | 19:49,207,718 | T/A | — | — |
| rs2251034 | 19:49,207,792 | G/A | 3 prime UTR variant | — |
| rs184968768 | 19:49,208,066 | G/T | 3 prime UTR variant | — |
| rs2432132 | 19:49,208,368 | C/T | — | — |
| rs507766 | 19:49,208,543 | T/A | — | — |
| rs504963 | 19:49,208,865 | G/A | 3 prime UTR variant | — |
| rs503279 | 19:49,209,010 | T/C | 3 prime UTR variant | — |
| rs633372 | 19:49,209,226 | G/A | downstream gene variant | — |
| rs2638280 | 19:49,209,318 | G/A | — | — |
| rs2548458 | 19:49,209,325 | C/T | downstream gene variant | — |
| rs692854 | 19:49,209,464 | C/A | downstream gene variant | — |
| rs1688264 | 19:49,209,560 | T/A | — | — |
| rs182699313 | 19:49,209,594 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.