ST3GAL6
ST3 beta-galactoside alpha-2,3-sialyltransferase 6
Summary
The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs532956698 | 3:98,456,213 | T/C | — | — |
| rs10470451 | 3:98,456,931 | G/A | — | — |
| rs28707457 | 3:98,459,895 | A/T | intron variant | — |
| rs141523411 | 3:98,461,629 | G/A | intron variant | — |
| rs28553326 | 3:98,461,644 | C/G | — | — |
| rs828596 | 3:98,465,313 | C/G | intron variant | — |
| rs4638909 | 3:98,471,376 | C/T | intron variant | — |
| rs114332892 | 3:98,479,692 | A/G | intron variant | — |
| rs828613 | 3:98,480,330 | A/G | intron variant | — |
| rs2028392 | 3:98,486,551 | T/C | — | — |
| rs752924707 | 3:98,487,292 | G/T | — | uncertain significance |
| rs144944096 | 3:98,487,361 | C/T | — | uncertain significance |
| rs138485838 | 3:98,489,746 | G/A | — | uncertain significance |
| rs1440152 | 3:98,489,915 | C/G | intron variant | — |
| rs828611 | 3:98,491,184 | C/T | intron variant | — |
| rs755446486 | 3:98,491,686 | C/T | — | uncertain significance |
| rs376953090 | 3:98,491,724 | G/A | — | uncertain significance |
| rs146985167 | 3:98,494,188 | C/T | intron variant | — |
| rs79935131 | 3:98,498,567 | G/T | upstream gene variant | — |
| rs34470469 | 3:98,499,528 | C/T | regulatory region variant | — |
| rs828610 | 3:98,501,603 | C/G | coding sequence variant | — |
| rs12108142 | 3:98,501,655 | A/G | coding sequence variant | — |
| rs13080057 | 3:98,502,553 | G/T | — | — |
| rs3772102 | 3:98,502,628 | T/G | downstream gene variant | — |
| rs73136045 | 3:98,503,993 | T/G | regulatory region variant | — |
| rs13072410 | 3:98,504,428 | A/G | regulatory region variant | — |
| rs73136048 | 3:98,504,767 | G/A | downstream gene variant | — |
| rs71311393 | 3:98,504,824 | C/T | downstream gene variant | — |
| rs138942183 | 3:98,506,993 | C/T | — | uncertain significance |
| rs761250005 | 3:98,507,008 | C/G | — | uncertain significance |
| rs143899769 | 3:98,507,043 | G/A | — | uncertain significance |
| rs370923626 | 3:98,507,231 | G/A | — | uncertain significance |
| rs72934623 | 3:98,509,705 | G/A | intron variant | — |
| rs780413810 | 3:98,510,694 | C/T | — | uncertain significance |
| rs775628514 | 3:98,510,835 | A/G | — | uncertain significance |
| rs565706665 | 3:98,511,610 | G/A | — | — |
| rs2472536543 | 3:98,512,564 | A/G | — | uncertain significance |
| rs143530286 | 3:98,512,576 | A/C | — | uncertain significance |
| rs141801266 | 3:98,512,577 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.