MCM6
minichromosome maintenance complex component 6
Summary
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11656 | 2:136,598,051 | T/C | — | — |
| rs55660827 | 2:136,598,443 | A/G | — | likely benign |
| rs755836471 | 2:136,598,448 | T/C | — | uncertain significance |
| rs770194362 | 2:136,602,120 | G/A | — | uncertain significance |
| rs770990427 | 2:136,602,128 | C/T | — | uncertain significance |
| rs1332206140 | 2:136,602,132 | G/A | — | uncertain significance |
| rs2467272704 | 2:136,602,188 | T/C | — | uncertain significance |
| rs4988270 | 2:136,602,196 | G/A | — | likely benign |
| rs150582728 | 2:136,602,249 | C/T | — | uncertain significance |
| rs3754686 | 2:136,603,276 | T/C | intron variant | — |
| rs3769005 | 2:136,603,366 | C/G | intron variant | — |
| rs149553347 | 2:136,603,816 | C/T | — | likely benign |
| rs2467276340 | 2:136,605,655 | A/G | — | uncertain significance |
| rs780718292 | 2:136,605,682 | T/C | — | uncertain significance |
| rs142938887 | 2:136,605,704 | G/A | — | uncertain significance |
| rs41525747 | 2:136,608,643 | G/C | — | association |
| rs4988235 | 2:136,608,646 | G/A | regulatory region variant | association |
| rs41380347 | 2:136,608,646 | T/G | intron variant | association |
| rs41456145 | 2:136,608,649 | A/G | — | uncertain significance |
| rs4988234 | 2:136,608,673 | C/T | intron variant | — |
| rs869051967 | 2:136,608,745 | A/C | — | — |
| rs145946881 | 2:136,608,746 | C/G | intron variant | association |
| rs1049632079 | 2:136,608,991 | C/T | — | uncertain significance |
| rs945901290 | 2:136,609,034 | G/A | — | uncertain significance |
| rs756704164 | 2:136,609,091 | G/A | — | uncertain significance |
| rs1175448106 | 2:136,610,412 | T/C | — | uncertain significance |
| rs756081356 | 2:136,610,425 | T/C | — | uncertain significance |
| rs776037433 | 2:136,610,458 | T/C | — | uncertain significance |
| rs309180 | 2:136,614,255 | G/A | intron variant | — |
| rs2467287120 | 2:136,614,368 | T/G | — | uncertain significance |
| rs1032174395 | 2:136,614,374 | T/C | — | uncertain significance |
| rs759786957 | 2:136,614,441 | C/T | — | uncertain significance |
| rs2467288436 | 2:136,615,475 | C/T | — | uncertain significance |
| rs138808270 | 2:136,615,535 | G/A | — | uncertain significance |
| rs191517067 | 2:136,615,571 | C/T | — | uncertain significance |
| rs182549 | 2:136,616,754 | C/T | intron variant | association |
| rs376760086 | 2:136,616,901 | A/C | — | uncertain significance |
| rs1381934296 | 2:136,617,003 | C/T | — | likely benign |
| rs160329 | 2:136,617,805 | C/T | intron variant | — |
| rs4988198 | 2:136,618,810 | T/C | intron variant | — |
| rs548418033 | 2:136,620,262 | T/C | — | uncertain significance |
| rs141448886 | 2:136,620,315 | T/C | — | benign |
| rs182626176 | 2:136,623,713 | T/C | — | uncertain significance |
| rs3087353 | 2:136,623,717 | C/T | — | benign |
| rs150278316 | 2:136,623,718 | G/A | — | uncertain significance |
| rs780556954 | 2:136,623,784 | C/T | — | uncertain significance |
| rs2289049 | 2:136,624,123 | G/A | — | benign |
| rs2467299483 | 2:136,624,162 | A/C | — | uncertain significance |
| rs1481057213 | 2:136,624,225 | G/T | — | uncertain significance |
| rs1680101163 | 2:136,624,276 | G/C | — | uncertain significance |
| rs2467301834 | 2:136,626,191 | T/C | — | uncertain significance |
| rs1438525822 | 2:136,626,231 | T/C | — | uncertain significance |
| rs777694769 | 2:136,626,254 | C/T | — | uncertain significance |
| rs146507564 | 2:136,626,283 | C/T | — | likely benign |
| rs201215953 | 2:136,626,389 | C/T | — | likely benign |
| rs189085457 | 2:136,626,390 | G/A | — | uncertain significance |
| rs746417693 | 2:136,627,847 | T/A | — | likely benign |
| rs772169779 | 2:136,627,848 | G/A | — | uncertain significance |
| rs1291101798 | 2:136,627,872 | G/A | — | uncertain significance |
| rs376597944 | 2:136,627,896 | A/T | — | uncertain significance |
| rs61750436 | 2:136,627,911 | C/T | — | likely benign |
| rs61752701 | 2:136,627,912 | G/A | — | likely benign |
| rs3087352 | 2:136,627,934 | G/A | — | benign |
| rs140626674 | 2:136,630,261 | C/T | — | likely benign |
| rs775251514 | 2:136,630,271 | A/G | — | uncertain significance |
| rs2467307148 | 2:136,630,334 | C/T | — | uncertain significance |
| rs139460893 | 2:136,630,358 | G/T | — | uncertain significance |
| rs144082863 | 2:136,630,377 | T/C | — | likely benign |
| rs376399397 | 2:136,630,400 | C/T | — | uncertain significance |
| rs191079 | 2:136,633,771 | T/G | — | — |
| rs754786359 | 2:136,633,920 | C/A | — | uncertain significance |
| rs1680298558 | 2:136,633,925 | G/A | — | uncertain significance |
| rs201537325 | 2:136,633,927 | G/A | — | benign |
| rs188565779 | 2:136,633,943 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.