DEGS2
delta 4-desaturase, sphingolipid 2
Summary
This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140696950 | 14:100,613,197 | G/A | — | benign |
| rs756182838 | 14:100,613,207 | G/A | — | uncertain significance |
| rs1423535210 | 14:100,613,232 | C/T | — | uncertain significance |
| rs1257176107 | 14:100,615,314 | G/C | — | uncertain significance |
| rs912081615 | 14:100,615,451 | C/T | — | uncertain significance |
| rs199587189 | 14:100,615,561 | G/A | — | uncertain significance |
| rs150661877 | 14:100,615,668 | G/A | — | benign |
| rs1490294231 | 14:100,615,693 | G/A | — | uncertain significance |
| rs375312215 | 14:100,615,706 | C/T | — | uncertain significance |
| rs752101559 | 14:100,615,715 | C/T | — | uncertain significance |
| rs774627972 | 14:100,615,784 | C/T | — | uncertain significance |
| rs145911498 | 14:100,615,820 | G/A | — | uncertain significance |
| rs141054766 | 14:100,615,828 | C/T | — | uncertain significance |
| rs376613523 | 14:100,615,832 | C/T | — | uncertain significance |
| rs373221255 | 14:100,615,847 | C/T | — | likely benign |
| rs147164898 | 14:100,615,876 | G/A | — | uncertain significance |
| rs771367330 | 14:100,615,973 | C/G | — | uncertain significance |
| rs370071999 | 14:100,616,006 | G/A | — | uncertain significance |
| rs751352297 | 14:100,616,008 | G/A | — | uncertain significance |
| rs7157599 | 14:100,625,902 | C/T | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.