MNAT1
MNAT1 component of CDK activating kinase
Summary
The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12147818 | 14:61,238,781 | G/A | intron variant | — |
| rs757665648 | 14:61,263,009 | A/G | — | uncertain significance |
| rs113043441 | 14:61,263,067 | C/T | — | benign |
| rs148083759 | 14:61,275,053 | G/C | — | likely benign |
| rs757485123 | 14:61,275,066 | G/T | — | uncertain significance |
| rs758087883 | 14:61,275,088 | A/G | — | uncertain significance |
| rs747555819 | 14:61,275,112 | A/G | — | uncertain significance |
| rs763156249 | 14:61,278,715 | A/G | — | uncertain significance |
| rs373266719 | 14:61,278,748 | G/A | — | uncertain significance |
| rs769089484 | 14:61,278,780 | C/G | — | uncertain significance |
| rs4151224 | 14:61,284,403 | C/A | intron variant | — |
| rs750166194 | 14:61,285,528 | C/T | — | uncertain significance |
| rs6573333 | 14:61,308,337 | T/A | — | — |
| rs3783819 | 14:61,316,264 | A/G | intron variant | — |
| rs72722286 | 14:61,343,618 | G/A | upstream gene variant | — |
| rs1400458032 | 14:61,346,454 | C/A | — | uncertain significance |
| rs61993025 | 14:61,377,123 | T/A | — | — |
| rs28813167 | 14:61,405,218 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.