ENTPD6
ectonucleoside triphosphate diphosphohydrolase 6
Summary
ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3787075 | 20:25,186,502 | C/G | regulatory region variant | — |
| rs184621325 | 20:25,187,219 | T/C | — | uncertain significance |
| rs182067559 | 20:25,187,700 | C/G | intron variant | — |
| rs34363734 | 20:25,187,723 | C/A | — | uncertain significance |
| rs201392452 | 20:25,187,815 | T/C | — | uncertain significance |
| rs2515365874 | 20:25,187,820 | A/G | — | uncertain significance |
| rs200024189 | 20:25,187,856 | G/A | — | uncertain significance |
| rs771355768 | 20:25,187,898 | G/C | — | uncertain significance |
| rs202026558 | 20:25,187,964 | G/A | — | uncertain significance |
| rs2091589346 | 20:25,188,004 | A/C | — | uncertain significance |
| rs55927253 | 20:25,190,036 | G/A | intron variant | — |
| rs545735578 | 20:25,190,494 | C/T | — | uncertain significance |
| rs757065847 | 20:25,194,002 | G/A | — | uncertain significance |
| rs199678910 | 20:25,195,549 | G/A | — | uncertain significance |
| rs761444831 | 20:25,197,290 | T/G | — | uncertain significance |
| rs775319134 | 20:25,197,352 | G/A | — | likely benign |
| rs1161317170 | 20:25,197,357 | C/G | — | uncertain significance |
| rs370052316 | 20:25,197,364 | C/T | — | uncertain significance |
| rs774493774 | 20:25,197,365 | G/A | — | uncertain significance |
| rs755231373 | 20:25,198,181 | G/A | — | likely benign |
| rs779547881 | 20:25,199,199 | G/A | — | uncertain significance |
| rs146956456 | 20:25,201,871 | A/T | — | uncertain significance |
| rs886087806 | 20:25,203,488 | G/A | — | uncertain significance |
| rs753078375 | 20:25,203,540 | C/T | — | uncertain significance |
| rs775355841 | 20:25,203,587 | G/A | — | uncertain significance |
| rs1443211025 | 20:25,203,597 | C/T | — | uncertain significance |
| rs140279087 | 20:25,203,612 | T/C | missense variant | — |
| rs752409976 | 20:25,205,865 | C/T | — | uncertain significance |
| rs73339100 | 20:25,205,881 | C/T | — | benign |
| rs35185820 | 20:25,205,903 | G/A | — | likely benign |
| rs200072947 | 20:25,206,184 | T/C | — | uncertain significance |
| rs1044573 | 20:25,206,654 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.