MUC12
mucin 12, cell surface associated
Summary
This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs774018507 | 7:100,634,381 | G/A | — | likely benign |
| rs192022887 | 7:100,634,567 | A/C | — | likely benign |
| rs201012482 | 7:100,634,621 | A/G | — | likely benign |
| rs199890519 | 7:100,635,311 | C/G | — | likely benign |
| rs201824365 | 7:100,635,686 | G/A | — | likely benign |
| rs200421275 | 7:100,635,743 | A/T | — | likely benign |
| rs566955309 | 7:100,635,956 | C/T | — | likely benign |
| rs778671820 | 7:100,636,082 | G/A | — | likely benign |
| rs201532225 | 7:100,636,169 | C/T | — | likely benign |
| rs2485752903 | 7:100,637,042 | A/G | — | likely benign |
| rs76022775 | 7:100,637,213 | G/T | — | likely benign |
| rs10248292 | 7:100,637,242 | G/A | — | likely benign |
| rs76001002 | 7:100,637,338 | G/A | — | likely benign |
| rs537007543 | 7:100,637,656 | C/T | — | likely benign |
| rs756028498 | 7:100,638,365 | C/T | — | likely benign |
| rs1417291167 | 7:100,638,668 | C/T | — | likely benign |
| rs373607137 | 7:100,638,701 | C/T | — | likely benign |
| rs373887154 | 7:100,638,995 | C/T | — | likely benign |
| rs1160084784 | 7:100,639,055 | T/C | — | likely benign |
| rs200282749 | 7:100,639,259 | A/G | — | likely benign |
| rs1301728909 | 7:100,640,102 | G/A | — | likely benign |
| rs200303708 | 7:100,642,455 | G/A | — | not provided |
| rs1422390864 | 7:100,644,317 | C/A | — | likely benign |
| rs60826346 | 7:100,644,504 | T/G | missense variant | — |
| rs1240771509 | 7:100,644,839 | A/G | — | likely benign |
| rs746622207 | 7:100,645,667 | C/T | — | likely benign |
| rs760878075 | 7:100,645,835 | C/T | — | likely benign |
| rs1332052490 | 7:100,645,892 | C/T | — | likely benign |
| rs147239420 | 7:100,646,055 | A/T | — | likely benign |
| rs1325835620 | 7:100,646,330 | G/A | — | likely benign |
| rs1475597039 | 7:100,646,367 | T/C | — | likely benign |
| rs758536191 | 7:100,646,663 | T/A | — | likely benign |
| rs1227655440 | 7:100,646,696 | A/C | — | likely benign |
| rs79635145 | 7:100,647,539 | C/T | — | benign |
| rs73402837 | 7:100,647,548 | G/C | — | benign |
| rs1321136010 | 7:100,647,554 | T/C | — | likely benign |
| rs200208357 | 7:100,647,656 | G/C | — | likely benign |
| rs191069047 | 7:100,647,758 | A/G | — | likely benign |
| rs111307353 | 7:100,647,774 | C/G | missense variant | — |
| rs552616938 | 7:100,647,824 | C/T | — | likely benign |
| rs201574648 | 7:100,648,025 | C/T | — | likely benign |
| rs765885709 | 7:100,648,135 | G/A | — | likely benign |
| rs555137488 | 7:100,649,758 | G/T | — | likely benign |
| rs35388175 | 7:100,653,227 | A/G | downstream gene variant | — |
| rs2485827860 | 7:100,661,881 | C/T | — | likely benign |
| rs2485827978 | 7:100,661,914 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.