MED9
mediator complex subunit 9
Summary
The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777927168 | 17:17,380,359 | G/T | — | uncertain significance |
| rs2508366267 | 17:17,380,366 | C/G | — | uncertain significance |
| rs776202685 | 17:17,380,410 | A/G | — | uncertain significance |
| rs2508366546 | 17:17,380,420 | A/C | — | likely benign |
| rs2508366731 | 17:17,380,474 | C/T | — | uncertain significance |
| rs368952311 | 17:17,380,503 | C/T | — | uncertain significance |
| rs777077590 | 17:17,380,528 | G/A | — | likely benign |
| rs762067850 | 17:17,380,555 | C/T | — | uncertain significance |
| rs1197686979 | 17:17,380,569 | A/G | — | uncertain significance |
| rs73292346 | 17:17,383,764 | G/C | intron variant | — |
| rs1242516 | 17:17,387,079 | T/A | — | — |
| rs1242518 | 17:17,387,899 | C/T | intron variant | — |
| rs1242490 | 17:17,393,236 | G/C | downstream gene variant | — |
| rs773616685 | 17:17,394,610 | C/T | — | uncertain significance |
| rs1905222590 | 17:17,394,640 | A/G | — | uncertain significance |
| rs117644167 | 17:17,394,676 | C/T | — | uncertain significance |
| rs144391026 | 17:17,396,464 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.