ADAM12
ADAM metallopeptidase domain 12
Summary
This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769071080 | 10:127,708,288 | G/C | — | likely benign |
| rs2494877351 | 10:127,708,317 | G/A | — | likely benign |
| rs199632862 | 10:127,708,357 | G/C | — | uncertain significance |
| rs201897440 | 10:127,724,749 | G/A | — | uncertain significance |
| rs762668977 | 10:127,724,762 | C/T | — | uncertain significance |
| rs1044122 | 10:127,724,778 | A/C | synonymous variant | — |
| rs372825649 | 10:127,724,782 | C/T | — | likely benign |
| rs746416051 | 10:127,724,803 | C/T | — | uncertain significance |
| rs368472298 | 10:127,724,837 | C/T | — | uncertain significance |
| rs764278136 | 10:127,724,870 | A/G | — | uncertain significance |
| rs1278250 | 10:127,725,103 | A/G | intron variant | — |
| rs114788194 | 10:127,726,846 | G/A | — | benign |
| rs74877588 | 10:127,726,849 | T/C | — | benign |
| rs199803722 | 10:127,726,911 | G/A | — | uncertain significance |
| rs140008372 | 10:127,727,888 | T/C | — | uncertain significance |
| rs142248459 | 10:127,727,916 | C/A | — | uncertain significance |
| rs2494968436 | 10:127,727,936 | C/T | — | uncertain significance |
| rs750102403 | 10:127,727,990 | C/T | — | uncertain significance |
| rs116311901 | 10:127,728,005 | C/G | — | benign |
| rs1264317468 | 10:127,731,635 | G/C | — | uncertain significance |
| rs773209786 | 10:127,731,717 | C/G | — | uncertain significance |
| rs115100580 | 10:127,734,644 | T/C | — | benign |
| rs758290774 | 10:127,737,881 | C/T | — | uncertain significance |
| rs370437694 | 10:127,737,887 | A/G | — | uncertain significance |
| rs564958099 | 10:127,737,896 | T/C | — | uncertain significance |
| rs376021623 | 10:127,738,160 | G/A | — | uncertain significance |
| rs2495047557 | 10:127,738,194 | C/T | — | uncertain significance |
| rs772890542 | 10:127,753,425 | T/C | — | uncertain significance |
| rs139774996 | 10:127,753,439 | G/A | — | likely benign |
| rs1278279 | 10:127,753,478 | G/A | synonymous variant | — |
| rs143318502 | 10:127,753,551 | G/A | — | uncertain significance |
| rs373681599 | 10:127,753,554 | G/A | — | uncertain significance |
| rs200615034 | 10:127,755,312 | G/A | — | uncertain significance |
| rs752942246 | 10:127,755,362 | C/T | — | uncertain significance |
| rs763234587 | 10:127,755,363 | G/A | — | uncertain significance |
| rs1871054 | 10:127,782,409 | C/T | intron variant | — |
| rs1270083832 | 10:127,782,606 | T/C | — | uncertain significance |
| rs144561426 | 10:127,789,698 | T/G | — | uncertain significance |
| rs746600345 | 10:127,789,755 | T/A | — | uncertain significance |
| rs770680038 | 10:127,789,756 | C/T | — | uncertain significance |
| rs781010835 | 10:127,789,765 | C/A | — | uncertain significance |
| rs534551777 | 10:127,797,208 | T/C | — | uncertain significance |
| rs752557834 | 10:127,798,370 | G/C | — | uncertain significance |
| rs745904055 | 10:127,798,396 | G/T | — | uncertain significance |
| rs747538611 | 10:127,806,645 | T/G | — | uncertain significance |
| rs377630592 | 10:127,806,654 | C/T | — | likely benign |
| rs112264074 | 10:127,806,710 | T/C | — | benign |
| rs748412799 | 10:127,806,730 | T/A | — | uncertain significance |
| rs1278329 | 10:127,823,151 | T/C | — | — |
| rs11244826 | 10:127,824,212 | A/G | — | benign |
| rs1551678 | 10:127,829,012 | C/G | intron variant | — |
| rs1278337 | 10:127,830,020 | G/C | downstream gene variant | — |
| rs11244841 | 10:127,834,566 | T/C | upstream gene variant | — |
| rs10901536 | 10:127,834,603 | C/A | upstream gene variant | — |
| rs775026440 | 10:127,843,810 | C/T | — | likely benign |
| rs911025871 | 10:127,843,828 | C/T | — | uncertain significance |
| rs369076470 | 10:127,843,858 | T/G | — | uncertain significance |
| rs769563485 | 10:127,843,870 | G/A | — | uncertain significance |
| rs775504862 | 10:127,843,874 | T/G | — | uncertain significance |
| rs12778749 | 10:127,846,669 | C/G | — | — |
| rs10901553 | 10:127,868,744 | A/C | — | — |
| rs10794069 | 10:127,911,533 | A/C | — | — |
| rs186288708 | 10:127,926,200 | C/T | intron variant | — |
| rs17154562 | 10:127,928,761 | G/C | intron variant | — |
| rs7902734 | 10:127,952,901 | G/A | regulatory region variant | — |
| rs3740199 | 10:128,019,025 | C/A | missense variant | — |
| rs758376933 | 10:128,019,037 | T/C | — | uncertain significance |
| rs183337783 | 10:128,019,052 | C/T | — | uncertain significance |
| rs916351393 | 10:128,051,017 | G/T | — | — |
| rs1856740126 | 10:128,076,645 | C/T | — | uncertain significance |
| rs746485745 | 10:128,076,666 | C/A | — | uncertain significance |
| rs776164501 | 10:128,076,684 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.