SAMD12
sterile alpha motif domain containing 12
Summary
Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. Implicated in familial adult myoclonic epilepsy 1. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185738850 | 8:119,372,204 | T/C | intron variant | — |
| rs17749211 | 8:119,391,409 | C/A | — | — |
| rs755687640 | 8:119,391,660 | A/T | — | uncertain significance |
| rs2488108116 | 8:119,391,663 | T/C | — | uncertain significance |
| rs761158431 | 8:119,391,897 | A/T | — | uncertain significance |
| rs918457365 | 8:119,391,900 | C/A | — | uncertain significance |
| rs13439537 | 8:119,445,649 | G/T | — | — |
| rs7813395 | 8:119,446,196 | G/A | intron variant | — |
| rs117020479 | 8:119,452,073 | G/A | — | likely benign |
| rs763629042 | 8:119,452,101 | T/A | — | uncertain significance |
| rs1335979436 | 8:119,452,135 | C/G | — | uncertain significance |
| rs10086297 | 8:119,480,487 | C/G | intron variant | — |
| rs533813975 | 8:119,486,742 | C/T | — | — |
| rs73317305 | 8:119,498,992 | T/C | intron variant | — |
| rs756598716 | 8:119,592,982 | C/T | — | uncertain significance |
| rs777363940 | 8:119,593,001 | G/T | — | uncertain significance |
| rs147252072 | 8:119,593,040 | G/C | — | uncertain significance |
| rs140695071 | 8:119,593,076 | T/C | — | uncertain significance |
| rs1304967359 | 8:119,593,106 | C/T | — | uncertain significance |
| rs1827958407 | 8:119,617,499 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.