B4GALNT3
beta-1,4-N-acetyl-galactosaminyltransferase 3
Summary
B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]
Known Variants95 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1035522519 | 12:569,606 | C/A | — | uncertain significance |
| rs144955552 | 12:569,626 | G/A | — | benign |
| rs968677460 | 12:569,645 | G/A | — | uncertain significance |
| rs760061774 | 12:569,690 | G/A | — | uncertain significance |
| rs2547194026 | 12:569,700 | C/T | — | uncertain significance |
| rs7966590 | 12:570,840 | G/C | — | — |
| rs11612478 | 12:574,998 | G/A | intron variant | — |
| rs141336511 | 12:576,618 | G/A | intron variant | — |
| rs7137546 | 12:577,237 | A/C | — | — |
| rs6489539 | 12:582,757 | C/G | intron variant | — |
| rs215223 | 12:590,259 | G/A | regulatory region variant | — |
| rs11063201 | 12:590,470 | G/A | regulatory region variant | — |
| rs215226 | 12:591,300 | A/G | intron variant | — |
| rs557639535 | 12:605,652 | G/A | — | — |
| rs12821124 | 12:608,745 | C/T | — | — |
| rs11063296 | 12:610,570 | A/G | intron variant | — |
| rs34019521 | 12:618,790 | G/C | regulatory region variant | — |
| rs11830324 | 12:619,618 | T/G | — | — |
| rs60309576 | 12:623,425 | G/C | — | — |
| rs150722154 | 12:628,987 | G/C | intron variant | — |
| rs145798250 | 12:644,345 | G/C | — | uncertain significance |
| rs2547226149 | 12:644,364 | C/G | — | uncertain significance |
| rs147742534 | 12:644,433 | G/A | — | likely benign |
| rs764473836 | 12:653,523 | C/G | — | uncertain significance |
| rs746859237 | 12:653,556 | A/C | — | uncertain significance |
| rs573970193 | 12:653,599 | A/G | — | uncertain significance |
| rs770668523 | 12:654,076 | T/C | — | uncertain significance |
| rs1400651359 | 12:654,111 | T/C | — | uncertain significance |
| rs778059394 | 12:655,816 | G/T | — | uncertain significance |
| rs2547232575 | 12:657,198 | C/T | — | uncertain significance |
| rs758817709 | 12:657,251 | G/A | — | uncertain significance |
| rs374755766 | 12:657,403 | C/T | — | uncertain significance |
| rs146986730 | 12:657,454 | C/T | — | uncertain significance |
| rs7954825 | 12:657,854 | T/A | — | — |
| rs58895526 | 12:658,104 | A/T | — | — |
| rs202040345 | 12:658,950 | A/G | — | likely benign |
| rs760087546 | 12:658,965 | G/T | — | uncertain significance |
| rs745338111 | 12:659,031 | C/T | — | uncertain significance |
| rs768914293 | 12:659,049 | G/A | — | uncertain significance |
| rs764421029 | 12:659,076 | G/A | — | uncertain significance |
| rs199925734 | 12:660,088 | T/G | — | uncertain significance |
| rs144889879 | 12:660,114 | C/T | — | uncertain significance |
| rs1452327709 | 12:661,253 | A/G | — | uncertain significance |
| rs200173452 | 12:661,265 | C/T | missense variant | — |
| rs370295905 | 12:662,360 | G/A | — | uncertain significance |
| rs755300147 | 12:662,405 | C/T | — | uncertain significance |
| rs35419938 | 12:662,412 | G/C | — | benign |
| rs771821752 | 12:662,446 | C/T | — | uncertain significance |
| rs372831242 | 12:662,515 | C/T | — | uncertain significance |
| rs138103066 | 12:662,516 | G/A | — | uncertain significance |
| rs2547236493 | 12:662,533 | C/T | — | uncertain significance |
| rs375520881 | 12:662,537 | G/A | — | likely benign |
| rs1345217249 | 12:662,566 | C/T | — | likely benign |
| rs148665138 | 12:662,597 | C/T | — | uncertain significance |
| rs1228846392 | 12:662,652 | G/T | — | uncertain significance |
| rs139421625 | 12:662,672 | A/T | — | uncertain significance |
| rs151321644 | 12:662,695 | C/T | — | benign |
| rs538602708 | 12:662,714 | C/G | — | uncertain significance |
| rs150035602 | 12:662,729 | C/T | — | uncertain significance |
| rs763992260 | 12:662,809 | C/T | — | likely benign |
| rs578203139 | 12:662,824 | C/T | — | uncertain significance |
| rs371561418 | 12:662,825 | G/A | — | likely benign |
| rs761519214 | 12:662,876 | C/A | — | uncertain significance |
| rs202219145 | 12:662,878 | G/A | — | likely benign |
| rs373238426 | 12:662,978 | C/T | — | uncertain significance |
| rs150169248 | 12:663,010 | C/T | — | uncertain significance |
| rs369288672 | 12:663,019 | G/A | — | uncertain significance |
| rs2547236876 | 12:663,071 | G/A | — | uncertain significance |
| rs148613080 | 12:663,147 | G/C | — | benign |
| rs756686272 | 12:665,729 | C/T | — | uncertain significance |
| rs777975495 | 12:665,813 | C/T | — | uncertain significance |
| rs140633399 | 12:665,814 | G/A | — | uncertain significance |
| rs778851588 | 12:665,816 | G/A | — | uncertain significance |
| rs145153320 | 12:665,822 | C/T | missense variant | — |
| rs146749190 | 12:665,830 | G/A | — | likely benign |
| rs553861974 | 12:665,888 | G/A | — | uncertain significance |
| rs1947160280 | 12:665,891 | G/C | — | uncertain significance |
| rs138955406 | 12:665,907 | G/T | — | benign |
| rs760482360 | 12:665,931 | G/A | — | uncertain significance |
| rs2547238625 | 12:665,958 | C/T | — | uncertain significance |
| rs141658973 | 12:666,011 | G/A | — | uncertain significance |
| rs759799839 | 12:666,839 | G/A | — | uncertain significance |
| rs149250843 | 12:666,900 | T/C | — | likely benign |
| rs1947180271 | 12:667,241 | T/C | — | uncertain significance |
| rs539329065 | 12:667,249 | G/A | — | uncertain significance |
| rs61730392 | 12:667,726 | G/C | — | likely benign |
| rs201094958 | 12:667,744 | G/A | — | uncertain significance |
| rs1947188348 | 12:667,792 | G/T | — | uncertain significance |
| rs778453462 | 12:668,543 | G/C | — | uncertain significance |
| rs779249566 | 12:670,538 | G/A | — | uncertain significance |
| rs201609633 | 12:670,543 | T/C | — | uncertain significance |
| rs368173091 | 12:670,580 | G/A | — | uncertain significance |
| rs1280701785 | 12:670,585 | A/T | — | uncertain significance |
| rs371741815 | 12:670,597 | C/T | — | uncertain significance |
| rs2240893 | 12:672,787 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.