B4GALNT2
beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
Summary
B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12450184 | 17:47,203,421 | G/A | — | — |
| rs72835405 | 17:47,207,658 | C/T | upstream gene variant | — |
| rs370406642 | 17:47,207,665 | G/A | — | — |
| rs146443714 | 17:47,210,166 | C/A | — | likely benign |
| rs780338935 | 17:47,210,413 | G/A | — | uncertain significance |
| rs761987918 | 17:47,210,446 | G/A | — | uncertain significance |
| rs977857537 | 17:47,210,464 | C/T | — | uncertain significance |
| rs147827612 | 17:47,210,488 | G/C | — | uncertain significance |
| rs577341474 | 17:47,218,643 | A/C | — | likely benign |
| rs141405800 | 17:47,218,665 | T/C | — | likely benign |
| rs2509131160 | 17:47,218,721 | G/C | — | uncertain significance |
| rs752554373 | 17:47,218,728 | C/G | — | uncertain significance |
| rs973359876 | 17:47,218,746 | T/C | — | likely benign |
| rs765775372 | 17:47,218,776 | G/A | — | likely benign |
| rs771679760 | 17:47,219,433 | C/A | — | uncertain significance |
| rs565993034 | 17:47,219,504 | G/T | — | uncertain significance |
| rs749775812 | 17:47,219,506 | C/G | — | uncertain significance |
| rs374155308 | 17:47,219,528 | A/G | — | uncertain significance |
| rs770682750 | 17:47,230,254 | C/T | — | uncertain significance |
| rs560373909 | 17:47,233,952 | C/T | — | uncertain significance |
| rs2042838344 | 17:47,236,483 | C/G | — | uncertain significance |
| rs748155124 | 17:47,236,532 | A/G | — | uncertain significance |
| rs1353708476 | 17:47,236,577 | T/C | — | uncertain significance |
| rs373854762 | 17:47,237,973 | G/C | — | uncertain significance |
| rs764085984 | 17:47,237,980 | C/G | — | uncertain significance |
| rs2508912986 | 17:47,241,574 | C/G | — | uncertain significance |
| rs72835417 | 17:47,241,642 | A/G | — | benign |
| rs766965101 | 17:47,243,535 | G/T | — | uncertain significance |
| rs147132109 | 17:47,243,560 | G/A | — | uncertain significance |
| rs59809949 | 17:47,245,929 | C/T | upstream gene variant | — |
| rs148441237 | 17:47,246,074 | A/G | — | affects |
| rs7224888 | 17:47,246,163 | T/C | — | benign |
| rs564089824 | 17:47,246,223 | G/C | — | uncertain significance |
| rs112740954 | 17:47,246,247 | C/T | — | benign |
| rs755003652 | 17:47,246,917 | G/A | — | uncertain significance |
| rs1211617859 | 17:47,246,930 | C/T | — | uncertain significance |
| rs61743617 | 17:47,246,956 | T/C | — | benign |
| rs755437863 | 17:47,246,993 | A/G | — | uncertain significance |
| rs2042943656 | 17:47,246,999 | C/T | — | uncertain significance |
| rs1324639046 | 17:47,247,047 | T/C | — | uncertain significance |
| rs1303375905 | 17:47,247,059 | A/G | — | uncertain significance |
| rs201307191 | 17:47,247,086 | C/T | — | uncertain significance |
| rs28689968 | 17:47,247,257 | C/T | downstream gene variant | — |
| rs1829845 | 17:47,248,391 | A/G | downstream gene variant | — |
| rs140473149 | 17:47,250,444 | C/G | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.