PTDSS2
phosphatidylserine synthase 2
Summary
The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs550949084 | 11:450,471 | C/T | — | uncertain significance |
| rs1846267140 | 11:450,514 | C/T | — | uncertain significance |
| rs2133742137 | 11:450,546 | G/A | — | uncertain significance |
| rs2539408672 | 11:450,607 | T/C | — | uncertain significance |
| rs530712579 | 11:457,904 | A/G | — | — |
| rs528949188 | 11:463,820 | A/C | coding sequence variant | — |
| rs1170355432 | 11:473,916 | G/T | — | uncertain significance |
| rs201233818 | 11:479,108 | G/A | — | uncertain significance |
| rs2539501850 | 11:479,111 | A/G | — | uncertain significance |
| rs568631736 | 11:486,608 | C/G | — | — |
| rs1254629091 | 11:487,039 | C/T | — | uncertain significance |
| rs371827342 | 11:487,453 | C/A | — | likely benign |
| rs772923086 | 11:488,241 | G/A | — | uncertain significance |
| rs777598687 | 11:488,535 | A/G | — | uncertain significance |
| rs764864887 | 11:489,589 | T/A | — | uncertain significance |
| rs1000723656 | 11:489,618 | C/G | — | uncertain significance |
| rs191633129 | 11:489,643 | C/G | — | uncertain significance |
| rs777212445 | 11:490,056 | G/A | — | uncertain significance |
| rs760184592 | 11:490,067 | C/T | — | uncertain significance |
| rs370331186 | 11:490,449 | G/A | — | uncertain significance |
| rs769200729 | 11:490,472 | G/A | — | uncertain significance |
| rs767099665 | 11:490,479 | A/G | — | uncertain significance |
| rs140991730 | 11:490,526 | G/A | — | uncertain significance |
| rs2539560532 | 11:490,539 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.