SAMD8
sterile alpha motif domain containing 8
Summary
Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9299525 | 10:76,878,025 | G/C | — | — |
| rs7072512 | 10:76,879,035 | A/G | — | — |
| rs10762658 | 10:76,879,562 | T/A | — | — |
| rs770264860 | 10:76,910,314 | C/T | — | uncertain significance |
| rs753692414 | 10:76,910,352 | G/C | — | uncertain significance |
| rs374105927 | 10:76,910,465 | A/G | — | uncertain significance |
| rs1246725563 | 10:76,910,541 | G/T | — | uncertain significance |
| rs1411023024 | 10:76,910,645 | A/G | — | uncertain significance |
| rs10824283 | 10:76,911,817 | A/T | — | — |
| rs187042787 | 10:76,917,740 | A/C | intron variant | — |
| rs1162774485 | 10:76,935,878 | T/C | — | uncertain significance |
| rs1234289517 | 10:76,936,317 | A/G | — | uncertain significance |
| rs2549320111 | 10:76,936,382 | G/A | — | uncertain significance |
| rs2549320142 | 10:76,936,406 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.