ENTPD2
ectonucleoside triphosphate diphosphohydrolase 2
Summary
The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139168222 | 9:139,943,159 | C/T | — | benign |
| rs975235613 | 9:139,943,168 | C/T | — | uncertain significance |
| rs769461523 | 9:139,943,231 | G/A | — | uncertain significance |
| rs775094455 | 9:139,943,239 | G/A | — | uncertain significance |
| rs777844762 | 9:139,943,276 | T/G | — | uncertain significance |
| rs2538242810 | 9:139,943,287 | G/A | — | uncertain significance |
| rs762361439 | 9:139,943,308 | G/C | — | likely benign |
| rs373169384 | 9:139,943,388 | C/T | — | likely benign |
| rs924557476 | 9:139,943,412 | C/G | — | uncertain significance |
| rs1371786503 | 9:139,943,413 | C/T | — | uncertain significance |
| rs747780229 | 9:139,943,443 | C/G | — | uncertain significance |
| rs1407093280 | 9:139,943,476 | C/T | — | uncertain significance |
| rs1171963294 | 9:139,943,500 | C/A | — | uncertain significance |
| rs371094769 | 9:139,943,502 | C/G | — | uncertain significance |
| rs2538243806 | 9:139,943,503 | G/A | — | uncertain significance |
| rs1261597365 | 9:139,943,520 | G/A | — | uncertain significance |
| rs540213991 | 9:139,944,384 | C/T | — | uncertain significance |
| rs755678006 | 9:139,944,405 | G/A | — | uncertain significance |
| rs771012813 | 9:139,944,420 | T/C | — | uncertain significance |
| rs150699539 | 9:139,944,422 | T/C | — | uncertain significance |
| rs532262598 | 9:139,944,428 | A/G | — | uncertain significance |
| rs552264498 | 9:139,944,429 | A/C | — | uncertain significance |
| rs4880083 | 9:139,944,736 | C/G | — | benign |
| rs555700532 | 9:139,944,816 | G/T | — | uncertain significance |
| rs748596985 | 9:139,944,833 | C/T | — | uncertain significance |
| rs142156660 | 9:139,944,900 | G/A | — | uncertain significance |
| rs267602176 | 9:139,944,911 | G/A | — | uncertain significance |
| rs1440273098 | 9:139,944,969 | A/G | — | uncertain significance |
| rs2538248901 | 9:139,945,377 | T/C | — | uncertain significance |
| rs116635795 | 9:139,945,414 | G/A | — | benign |
| rs367870548 | 9:139,945,461 | C/T | — | uncertain significance |
| rs200191389 | 9:139,945,484 | C/G | — | uncertain significance |
| rs2538249365 | 9:139,945,488 | T/C | — | likely benign |
| rs1208173788 | 9:139,945,502 | A/T | — | uncertain significance |
| rs35983961 | 9:139,945,550 | C/T | — | benign |
| rs76730730 | 9:139,945,677 | C/T | — | likely benign |
| rs768216778 | 9:139,945,727 | G/A | — | uncertain significance |
| rs752597686 | 9:139,945,737 | G/T | — | uncertain significance |
| rs767588454 | 9:139,945,742 | C/A | — | uncertain significance |
| rs746505668 | 9:139,945,802 | G/A | — | uncertain significance |
| rs202076896 | 9:139,945,978 | C/T | — | uncertain significance |
| rs745366088 | 9:139,945,996 | A/G | — | uncertain significance |
| rs367957035 | 9:139,946,010 | G/A | — | uncertain significance |
| rs150545300 | 9:139,946,047 | C/T | missense variant | — |
| rs2538250999 | 9:139,946,064 | C/G | — | uncertain significance |
| rs749941005 | 9:139,946,065 | T/A | — | uncertain significance |
| rs1464241978 | 9:139,946,100 | G/C | — | uncertain significance |
| rs377158813 | 9:139,946,742 | G/A | — | uncertain significance |
| rs145319457 | 9:139,946,766 | G/A | — | uncertain significance |
| rs891621748 | 9:139,948,392 | C/A | — | uncertain significance |
| rs1021960460 | 9:139,948,403 | G/C | — | uncertain significance |
| rs757407720 | 9:139,948,417 | C/T | — | likely benign |
| rs539623884 | 9:139,948,440 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.