CHKA
choline kinase alpha
Summary
The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1309761408 | 11:67,829,444 | A/G | — | likely benign |
| rs759511552 | 11:67,832,071 | C/T | — | uncertain significance |
| rs2134518071 | 11:67,833,357 | A/G | — | likely pathogenic |
| rs7928739 | 11:67,833,543 | C/G | — | — |
| rs151320545 | 11:67,833,936 | G/T | — | uncertain significance |
| rs3763944 | 11:67,836,731 | G/A | intron variant | — |
| rs1009983788 | 11:67,837,683 | T/C | — | uncertain significance |
| rs1340004533 | 11:67,837,712 | A/C | — | uncertain significance |
| rs2495788618 | 11:67,838,235 | C/G | — | uncertain significance |
| rs138597091 | 11:67,838,267 | C/T | — | uncertain significance |
| rs775017205 | 11:67,838,312 | C/T | — | uncertain significance |
| rs763056271 | 11:67,842,234 | G/A | — | likely pathogenic |
| rs375494662 | 11:67,842,252 | C/T | — | uncertain significance |
| rs1291342588 | 11:67,842,266 | A/G | — | uncertain significance |
| rs765529707 | 11:67,864,527 | G/A | — | likely pathogenic |
| rs10791957 | 11:67,867,548 | C/G | — | — |
| rs759267907 | 11:67,888,392 | G/A | — | uncertain significance |
| rs769093407 | 11:67,888,421 | G/A | — | uncertain significance |
| rs770487488 | 11:67,888,431 | G/A | — | uncertain significance |
| rs2496099266 | 11:67,888,432 | C/G | — | uncertain significance |
| rs995885133 | 11:67,888,455 | G/A | — | uncertain significance |
| rs764007285 | 11:67,888,469 | G/A | — | uncertain significance |
| rs1447459187 | 11:67,888,473 | G/A | — | uncertain significance |
| rs2496100058 | 11:67,888,481 | A/C | — | uncertain significance |
| rs1263361013 | 11:67,888,497 | C/A | — | uncertain significance |
| rs912894172 | 11:67,888,544 | C/T | — | uncertain significance |
| rs2153034846 | 11:67,888,643 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.