B3GAT1
beta-1,3-glucuronyltransferase 1
Summary
The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs542811736 | 11:134,251,852 | C/T | — | uncertain significance |
| rs1303300760 | 11:134,252,634 | G/T | — | uncertain significance |
| rs1374536721 | 11:134,252,735 | G/C | — | uncertain significance |
| rs115362398 | 11:134,252,841 | G/A | — | benign |
| rs541357496 | 11:134,252,876 | C/T | — | uncertain significance |
| rs767171541 | 11:134,253,587 | T/G | — | uncertain significance |
| rs1368387482 | 11:134,253,691 | C/A | — | uncertain significance |
| rs766176210 | 11:134,253,801 | G/C | — | uncertain significance |
| rs765407391 | 11:134,253,887 | G/A | — | uncertain significance |
| rs766472299 | 11:134,253,908 | G/A | — | uncertain significance |
| rs888479320 | 11:134,253,981 | C/T | — | uncertain significance |
| rs148540880 | 11:134,253,984 | A/G | — | uncertain significance |
| rs367583989 | 11:134,254,005 | C/G | — | uncertain significance |
| rs1944317506 | 11:134,257,457 | G/A | — | uncertain significance |
| rs79256507 | 11:134,263,728 | C/A | regulatory region variant | — |
| rs80021729 | 11:134,263,734 | A/C | regulatory region variant | — |
| rs58475265 | 11:134,264,142 | T/C | regulatory region variant | — |
| rs74622686 | 11:134,264,227 | A/G | regulatory region variant | — |
| rs75373472 | 11:134,264,506 | T/G | upstream gene variant | — |
| rs111711955 | 11:134,264,529 | A/G | upstream gene variant | — |
| rs75842822 | 11:134,265,236 | C/T | upstream gene variant | — |
| rs7928758 | 11:134,265,967 | T/G | upstream gene variant | — |
| rs34702205 | 11:134,270,721 | G/A | intron variant | — |
| rs11822913 | 11:134,271,645 | T/A | intron variant | — |
| rs76956658 | 11:134,272,144 | G/A | intron variant | — |
| rs56387937 | 11:134,276,970 | C/T | intron variant | — |
| rs28378882 | 11:134,280,503 | G/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.