CERS2
ceramide synthase 2
Summary
This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779228104 | 1:150,938,637 | C/G | — | uncertain significance |
| rs1671008099 | 1:150,938,650 | T/C | — | uncertain significance |
| rs138395828 | 1:150,938,680 | G/A | — | uncertain significance |
| rs774392793 | 1:150,938,740 | G/C | — | uncertain significance |
| rs149992226 | 1:150,939,281 | C/T | — | likely benign |
| rs9435954 | 1:150,939,318 | G/A | — | benign |
| rs1030877928 | 1:150,939,319 | T/C | — | uncertain significance |
| rs1042153516 | 1:150,939,879 | C/T | — | uncertain significance |
| rs78875607 | 1:150,939,883 | A/G | — | benign |
| rs199945675 | 1:150,939,894 | T/G | — | uncertain significance |
| rs76805488 | 1:150,940,308 | G/A | — | benign |
| rs1571673661 | 1:150,940,611 | G/A | — | uncertain significance |
| rs267738 | 1:150,940,625 | T/A | missense variant | — |
| rs763440395 | 1:150,940,647 | C/T | — | uncertain significance |
| rs899212532 | 1:150,940,651 | C/A | — | uncertain significance |
| rs372038919 | 1:150,941,446 | T/C | — | uncertain significance |
| rs376632374 | 1:150,941,467 | C/T | — | uncertain significance |
| rs140031607 | 1:150,941,476 | G/T | — | uncertain significance |
| rs587718634 | 1:150,941,529 | C/T | — | uncertain significance |
| rs6677420 | 1:150,946,490 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.