GEMIN7
gem nuclear organelle associated protein 7
Summary
The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs183321458 | 19:45,581,076 | G/A | regulatory region variant | — |
| rs766609239 | 19:45,593,456 | T/A | — | uncertain significance |
| rs535951099 | 19:45,593,488 | C/T | — | uncertain significance |
| rs2513748080 | 19:45,593,512 | C/T | — | likely benign |
| rs776071495 | 19:45,593,520 | T/A | — | uncertain significance |
| rs771267356 | 19:45,593,678 | C/G | — | uncertain significance |
| rs1335457478 | 19:45,593,715 | G/A | — | uncertain significance |
| rs77660932 | 19:45,594,842 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.