MED15
mediator complex subunit 15
Summary
The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs165687 | 22:20,867,265 | G/C | — | — |
| rs2517747480 | 22:20,905,738 | C/G | — | uncertain significance |
| rs145726043 | 22:20,909,246 | C/G | — | uncertain significance |
| rs148919404 | 22:20,909,285 | A/T | — | uncertain significance |
| rs372021043 | 22:20,909,315 | G/A | — | uncertain significance |
| rs2517762791 | 22:20,909,316 | G/A | — | uncertain significance |
| rs952440876 | 22:20,909,329 | C/G | — | uncertain significance |
| rs746564848 | 22:20,909,339 | A/G | — | uncertain significance |
| rs542438451 | 22:20,909,341 | G/A | — | uncertain significance |
| rs141019125 | 22:20,909,371 | G/A | — | likely benign |
| rs760620344 | 22:20,918,809 | C/T | — | likely benign |
| rs1417788935 | 22:20,920,824 | A/G | — | uncertain significance |
| rs761817217 | 22:20,920,850 | G/A | — | uncertain significance |
| rs562593649 | 22:20,920,883 | C/T | — | uncertain significance |
| rs766191914 | 22:20,920,966 | G/A | — | likely benign |
| rs2517814656 | 22:20,920,979 | C/T | — | uncertain significance |
| rs1453731006 | 22:20,921,006 | C/A | — | uncertain significance |
| rs165720 | 22:20,924,156 | C/T | intron variant | — |
| rs746379826 | 22:20,929,436 | A/G | — | likely benign |
| rs2517851715 | 22:20,929,458 | C/T | — | uncertain significance |
| rs377140443 | 22:20,929,461 | C/T | — | uncertain significance |
| rs368105022 | 22:20,936,938 | C/T | — | uncertain significance |
| rs547574547 | 22:20,937,000 | G/T | — | uncertain significance |
| rs753966700 | 22:20,937,194 | G/T | — | uncertain significance |
| rs761790480 | 22:20,937,426 | G/A | — | uncertain significance |
| rs542534282 | 22:20,937,441 | G/A | — | uncertain significance |
| rs165643 | 22:20,937,601 | C/T | — | benign |
| rs375932399 | 22:20,938,666 | A/G | — | uncertain significance |
| rs165835 | 22:20,939,123 | G/A | — | benign |
| rs2517893206 | 22:20,939,227 | G/A | — | uncertain significance |
| rs143509872 | 22:20,939,288 | C/A | — | uncertain significance |
| rs147995933 | 22:20,939,289 | G/A | — | uncertain significance |
| rs545357841 | 22:20,939,443 | A/G | — | uncertain significance |
| rs778528739 | 22:20,940,098 | C/T | — | uncertain significance |
| rs142004622 | 22:20,940,856 | C/T | — | likely benign |
| rs149390700 | 22:20,940,881 | C/T | — | uncertain significance |
| rs769499620 | 22:20,940,935 | G/A | — | uncertain significance |
| rs763588636 | 22:20,940,944 | A/G | — | uncertain significance |
| rs751126196 | 22:20,940,948 | C/A | — | uncertain significance |
| rs148544638 | 22:20,940,962 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.