CHPT1
choline phosphotransferase 1
Summary
Enables diacylglycerol cholinephosphotransferase activity. Involved in phosphatidylcholine biosynthetic process and platelet activating factor biosynthetic process. Is active in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11110965 | 12:102,091,421 | C/T | regulatory region variant | — |
| rs980596608 | 12:102,091,664 | T/G | — | uncertain significance |
| rs1212124769 | 12:102,091,715 | C/G | — | uncertain significance |
| rs748482566 | 12:102,091,730 | G/C | — | uncertain significance |
| rs371577398 | 12:102,091,766 | G/C | — | uncertain significance |
| rs755098314 | 12:102,091,896 | C/G | — | uncertain significance |
| rs74692062 | 12:102,092,442 | C/G | regulatory region variant | — |
| rs2559852 | 12:102,092,832 | A/G | — | — |
| rs10778141 | 12:102,093,235 | G/T | — | — |
| rs2559850 | 12:102,093,459 | G/A | regulatory region variant | — |
| rs764155049 | 12:102,107,875 | A/G | — | uncertain significance |
| rs757509848 | 12:102,108,012 | A/G | — | uncertain significance |
| rs1365941585 | 12:102,110,513 | G/A | — | uncertain significance |
| rs149385670 | 12:102,110,570 | G/C | — | uncertain significance |
| rs369936908 | 12:102,110,571 | C/T | — | uncertain significance |
| rs144773874 | 12:102,113,928 | A/T | — | uncertain significance |
| rs1051129023 | 12:102,113,934 | C/G | — | uncertain significance |
| rs1468444189 | 12:102,116,960 | G/T | — | uncertain significance |
| rs79716906 | 12:102,117,581 | T/C | — | benign |
| rs770801766 | 12:102,120,104 | T/G | — | uncertain significance |
| rs1404553980 | 12:102,120,105 | A/G | — | uncertain significance |
| rs116668070 | 12:102,120,152 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.