GALK2
galactokinase 2
Summary
This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs915829029 | 15:49,462,545 | G/A | — | uncertain significance |
| rs750741381 | 15:49,462,550 | G/T | — | uncertain significance |
| rs1005187913 | 15:49,462,553 | C/G | — | uncertain significance |
| rs139521545 | 15:49,493,378 | A/G | — | uncertain significance |
| rs756918705 | 15:49,493,442 | T/A | — | uncertain significance |
| rs586758 | 15:49,508,572 | A/G | regulatory region variant | — |
| rs761149976 | 15:49,509,417 | T/C | — | uncertain significance |
| rs55979115 | 15:49,527,624 | T/C | intron variant | — |
| rs2505300025 | 15:49,528,085 | A/C | — | uncertain significance |
| rs2090776501 | 15:49,528,134 | T/C | — | uncertain significance |
| rs1388585321 | 15:49,531,422 | A/T | — | uncertain significance |
| rs1241195039 | 15:49,531,446 | G/A | — | uncertain significance |
| rs1311496676 | 15:49,531,448 | A/G | — | uncertain significance |
| rs947815363 | 15:49,531,548 | G/A | — | uncertain significance |
| rs16962191 | 15:49,540,216 | A/G | intron variant | — |
| rs2086256 | 15:49,558,026 | T/C | intron variant | — |
| rs1904317 | 15:49,562,266 | C/T | intron variant | — |
| rs1312694092 | 15:49,574,245 | T/A | — | uncertain significance |
| rs749084823 | 15:49,574,251 | A/G | — | uncertain significance |
| rs369854223 | 15:49,575,799 | G/A | — | uncertain significance |
| rs370443921 | 15:49,575,901 | C/T | — | uncertain significance |
| rs754923275 | 15:49,575,910 | G/T | — | uncertain significance |
| rs199727284 | 15:49,575,911 | C/G | — | uncertain significance |
| rs778993014 | 15:49,584,702 | G/A | — | uncertain significance |
| rs1017671926 | 15:49,611,825 | G/A | — | uncertain significance |
| rs374804284 | 15:49,611,842 | A/G | — | uncertain significance |
| rs148552843 | 15:49,611,845 | G/A | — | uncertain significance |
| rs147794087 | 15:49,611,878 | T/C | — | uncertain significance |
| rs768448154 | 15:49,611,948 | G/A | — | uncertain significance |
| rs773083023 | 15:49,611,956 | T/C | — | uncertain significance |
| rs767278183 | 15:49,620,191 | G/C | — | uncertain significance |
| rs377181822 | 15:49,620,210 | A/G | — | uncertain significance |
| rs1336810027 | 15:49,620,217 | C/T | — | uncertain significance |
| rs755679971 | 15:49,620,258 | G/A | — | uncertain significance |
| rs12232354 | 15:49,643,629 | C/T | intron variant | — |
| rs139884542 | 15:49,646,502 | G/T | — | — |
| rs9744816 | 15:49,652,230 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.