MED12L
mediator complex subunit 12L
Summary
The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]
Known Variants234 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1483015494 | 3:150,804,745 | A/G | — | uncertain significance |
| rs778882816 | 3:150,804,774 | C/T | — | uncertain significance |
| rs2529225458 | 3:150,804,787 | A/G | — | uncertain significance |
| rs1293730351 | 3:150,804,795 | G/T | — | uncertain significance |
| rs2529225789 | 3:150,804,799 | C/G | — | uncertain significance |
| rs2529225857 | 3:150,804,809 | G/C | — | uncertain significance |
| rs2529692433 | 3:150,834,138 | C/T | — | uncertain significance |
| rs1712820141 | 3:150,834,173 | G/A | — | uncertain significance |
| rs2529693218 | 3:150,834,192 | A/G | — | uncertain significance |
| rs2529693361 | 3:150,834,209 | A/G | — | uncertain significance |
| rs1712821841 | 3:150,834,210 | T/G | — | uncertain significance |
| rs2529693723 | 3:150,834,229 | G/A | — | uncertain significance |
| rs2529790316 | 3:150,840,584 | T/G | — | uncertain significance |
| rs201471319 | 3:150,840,631 | C/T | — | uncertain significance |
| rs1560069336 | 3:150,840,713 | G/A | — | likely pathogenic |
| rs770568303 | 3:150,845,674 | G/T | — | uncertain significance |
| rs759022435 | 3:150,845,679 | G/A | — | uncertain significance |
| rs879180905 | 3:150,845,723 | A/T | — | uncertain significance |
| rs780133070 | 3:150,845,763 | C/T | — | uncertain significance |
| rs2530392269 | 3:150,873,956 | C/T | — | likely pathogenic |
| rs201089474 | 3:150,874,057 | G/T | — | likely benign |
| rs2148936586 | 3:150,874,058 | G/T | — | uncertain significance |
| rs2530395777 | 3:150,874,071 | T/G | — | uncertain significance |
| rs761030969 | 3:150,874,092 | A/G | — | uncertain significance |
| rs2530441097 | 3:150,876,536 | A/G | — | uncertain significance |
| rs2530441168 | 3:150,876,539 | C/T | — | uncertain significance |
| rs775602561 | 3:150,876,540 | C/A | — | uncertain significance |
| rs1173826572 | 3:150,876,552 | A/G | — | uncertain significance |
| rs2148948568 | 3:150,876,564 | T/A | — | uncertain significance |
| rs763381031 | 3:150,877,668 | A/G | — | uncertain significance |
| rs1284240491 | 3:150,877,763 | A/G | — | uncertain significance |
| rs199955970 | 3:150,877,790 | C/G | — | uncertain significance |
| rs375566413 | 3:150,877,811 | G/T | — | uncertain significance |
| rs1353366286 | 3:150,877,856 | C/T | — | uncertain significance |
| rs1720345082 | 3:150,881,740 | A/G | — | uncertain significance |
| rs139974900 | 3:150,881,743 | G/A | — | likely benign |
| rs761280014 | 3:150,881,822 | A/T | — | uncertain significance |
| rs768584576 | 3:150,883,210 | C/T | — | uncertain significance |
| rs2530585292 | 3:150,883,219 | A/G | — | uncertain significance |
| rs1217500817 | 3:150,883,298 | C/A | — | uncertain significance |
| rs2567322 | 3:150,883,600 | T/C | — | benign |
| rs1328141646 | 3:150,883,633 | G/A | — | uncertain significance |
| rs750101653 | 3:150,883,636 | T/G | — | likely benign |
| rs2148981349 | 3:150,883,692 | C/T | — | conflicting classifications of pathogenicity |
| rs761028675 | 3:150,883,748 | C/G | — | uncertain significance |
| rs752139829 | 3:150,903,121 | C/T | — | uncertain significance |
| rs772276870 | 3:150,903,145 | C/T | — | uncertain significance |
| rs2149073341 | 3:150,903,165 | G/A | — | uncertain significance |
| rs2530931965 | 3:150,903,248 | G/A | — | uncertain significance |
| rs1300408938 | 3:150,903,252 | G/A | — | uncertain significance |
| rs2530985372 | 3:150,906,144 | T/C | — | uncertain significance |
| rs2530985550 | 3:150,906,150 | G/A | — | uncertain significance |
| rs979476247 | 3:150,906,153 | T/C | — | uncertain significance |
| rs1417684711 | 3:150,906,177 | T/A | — | uncertain significance |
| rs1397894252 | 3:150,906,196 | T/G | — | uncertain significance |
| rs34561681 | 3:150,908,517 | T/C | — | likely benign |
| rs1723870830 | 3:150,908,576 | A/G | — | uncertain significance |
| rs1161292258 | 3:150,908,596 | G/T | — | uncertain significance |
| rs2531038278 | 3:150,908,611 | C/T | — | uncertain significance |
| rs2149096532 | 3:150,908,620 | C/T | — | pathogenic |
| rs199730852 | 3:150,908,656 | C/T | — | likely benign |
| rs368991764 | 3:150,908,657 | G/A | — | uncertain significance |
| rs370522377 | 3:150,911,286 | C/T | — | likely benign |
| rs2531096808 | 3:150,911,299 | A/T | — | uncertain significance |
| rs777877551 | 3:150,911,305 | G/A | — | uncertain significance |
| rs772438632 | 3:150,911,350 | G/T | — | conflicting classifications of pathogenicity |
| rs1242916912 | 3:150,911,357 | G/C | — | uncertain significance |
| rs2149108188 | 3:150,911,368 | G/A | — | uncertain significance |
| rs2149108285 | 3:150,911,418 | C/T | — | uncertain significance |
| rs1724263784 | 3:150,911,424 | C/T | — | likely pathogenic |
| rs2531099640 | 3:150,911,430 | G/A | — | uncertain significance |
| rs1724264641 | 3:150,911,442 | C/T | — | uncertain significance |
| rs114483579 | 3:151,012,541 | C/T | — | likely benign |
| rs12107539 | 3:151,042,464 | A/C | — | — |
| rs772875779 | 3:151,067,843 | T/A | — | uncertain significance |
| rs2473467249 | 3:151,067,909 | G/C | — | uncertain significance |
| rs2473467515 | 3:151,067,919 | G/A | — | uncertain significance |
| rs2150018879 | 3:151,067,977 | G/T | — | uncertain significance |
| rs2473468586 | 3:151,067,983 | C/G | — | uncertain significance |
| rs2473537655 | 3:151,072,909 | T/C | — | uncertain significance |
| rs2473537987 | 3:151,072,926 | A/G | — | uncertain significance |
| rs200848773 | 3:151,072,983 | C/G | — | uncertain significance |
| rs1473421066 | 3:151,072,995 | T/C | — | uncertain significance |
| rs186287395 | 3:151,073,681 | C/A | — | likely benign |
| rs2473552309 | 3:151,073,723 | T/A | — | uncertain significance |
| rs748046032 | 3:151,073,768 | A/G | — | uncertain significance |
| rs2150052393 | 3:151,073,777 | C/T | — | uncertain significance |
| rs2473553457 | 3:151,073,804 | G/A | — | conflicting classifications of pathogenicity |
| rs2473553756 | 3:151,073,824 | A/G | — | uncertain significance |
| rs113870797 | 3:151,073,834 | A/G | — | benign |
| rs746991534 | 3:151,075,047 | C/T | — | uncertain significance |
| rs1380964632 | 3:151,075,094 | G/A | — | uncertain significance |
| rs142343183 | 3:151,075,103 | C/T | — | likely benign |
| rs146070871 | 3:151,078,274 | G/A | — | likely benign |
| rs2473613344 | 3:151,078,293 | C/T | — | uncertain significance |
| rs2473613447 | 3:151,078,309 | C/T | — | uncertain significance |
| rs2473613799 | 3:151,078,350 | G/A | — | uncertain significance |
| rs766252052 | 3:151,078,399 | T/C | — | likely benign |
| rs1416139284 | 3:151,082,777 | T/C | — | uncertain significance |
| rs2473668131 | 3:151,082,835 | G/T | — | uncertain significance |
Showing 100 of 234 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.