SEM1
SEM1 26S proteasome subunit
Summary
The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs752460892 | 7:96,115,662 | C/G | — | uncertain significance |
| rs4729260 | 7:96,117,918 | G/T | — | — |
| rs10429035 | 7:96,119,481 | G/A | intron variant | — |
| rs4727338 | 7:96,120,675 | G/C | intron variant | — |
| rs4383904 | 7:96,121,636 | T/C | intron variant | — |
| rs7781370 | 7:96,133,531 | T/A | — | — |
| rs6465511 | 7:96,134,115 | C/A | — | — |
| rs4132568 | 7:96,134,981 | A/T | — | — |
| rs4440558 | 7:96,135,274 | A/C | — | — |
| rs10085588 | 7:96,137,674 | A/G | regulatory region variant | — |
| rs4389863 | 7:96,145,105 | A/G | intron variant | — |
| rs6960700 | 7:96,146,489 | T/C | intron variant | — |
| rs6971293 | 7:96,148,577 | T/A | — | — |
| rs533698606 | 7:96,150,915 | C/T | — | — |
| rs6964260 | 7:96,194,571 | T/A | intron variant | — |
| rs12704861 | 7:96,197,349 | C/G | — | — |
| rs62471406 | 7:96,201,273 | A/G | — | — |
| rs10278627 | 7:96,202,718 | G/A | intron variant | — |
| rs201650162 | 7:96,210,219 | C/A | — | — |
| rs202055590 | 7:96,214,343 | A/T | — | — |
| rs7790840 | 7:96,214,960 | G/T | intron variant | — |
| rs7788173 | 7:96,219,460 | A/G | intron variant | — |
| rs56290730 | 7:96,227,720 | T/C | intron variant | — |
| rs34999158 | 7:96,236,939 | A/G | — | — |
| rs144707454 | 7:96,318,266 | C/T | — | likely benign |
| rs377420507 | 7:96,324,191 | A/G | — | uncertain significance |
| rs779890818 | 7:96,339,005 | G/A | — | uncertain significance |
| rs1218245422 | 7:96,339,043 | A/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.