GID4
GID complex subunit 4 homolog
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 Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147941728 | 17:17,942,194 | C/A | splice region variant | pathogenic |
| rs186674984 | 17:17,942,830 | C/T | — | uncertain significance |
| rs988567617 | 17:17,942,842 | G/T | — | uncertain significance |
| rs2145538887 | 17:17,942,863 | C/T | — | uncertain significance |
| rs369896915 | 17:17,942,866 | G/A | — | uncertain significance |
| rs927153372 | 17:17,942,881 | A/G | — | uncertain significance |
| rs2044762338 | 17:17,942,885 | A/C | — | uncertain significance |
| rs533427067 | 17:17,942,992 | C/T | — | uncertain significance |
| rs748773460 | 17:17,942,998 | C/T | — | uncertain significance |
| rs377621102 | 17:17,943,151 | G/A | — | uncertain significance |
| rs765753088 | 17:17,948,471 | C/A | — | uncertain significance |
| rs11658257 | 17:17,956,459 | G/C | intron variant | — |
| rs8082590 | 17:17,958,402 | G/T | — | — |
| rs776006285 | 17:17,962,226 | A/C | — | likely benign |
| rs961266678 | 17:17,962,245 | G/A | — | uncertain significance |
| rs200321621 | 17:17,962,266 | G/C | — | uncertain significance |
| rs148185155 | 17:17,966,237 | A/G | intron variant | — |
| rs2955371 | 17:17,967,397 | G/A | intron variant | — |
| rs564469359 | 17:17,970,464 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.