ENPP5
ectonucleotide pyrophosphatase/phosphodiesterase family member 5
Summary
This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs939264788 | 6:46,129,161 | C/A | — | uncertain significance |
| rs1039204158 | 6:46,129,352 | T/C | — | uncertain significance |
| rs369493397 | 6:46,129,428 | G/A | — | uncertain significance |
| rs764583524 | 6:46,129,446 | T/C | — | uncertain significance |
| rs16874322 | 6:46,129,684 | T/A | intron variant | — |
| rs562343547 | 6:46,129,824 | T/C | — | — |
| rs77991465 | 6:46,130,825 | G/C | — | — |
| rs747141464 | 6:46,133,174 | A/G | — | uncertain significance |
| rs138339234 | 6:46,133,204 | T/C | — | uncertain significance |
| rs146851545 | 6:46,133,229 | C/G | — | uncertain significance |
| rs763539819 | 6:46,133,286 | C/T | — | uncertain significance |
| rs1257140742 | 6:46,135,203 | T/A | — | uncertain significance |
| rs1000025781 | 6:46,135,209 | A/G | — | uncertain significance |
| rs747588311 | 6:46,135,369 | T/C | — | uncertain significance |
| rs201860227 | 6:46,135,388 | C/T | — | uncertain significance |
| rs1028533114 | 6:46,135,407 | C/T | — | uncertain significance |
| rs148947723 | 6:46,135,476 | G/A | — | uncertain significance |
| rs1441628198 | 6:46,135,501 | C/T | — | uncertain significance |
| rs764073419 | 6:46,135,555 | G/A | — | likely benign |
| rs1293000273 | 6:46,135,600 | T/A | — | uncertain significance |
| rs150449006 | 6:46,135,717 | T/C | — | uncertain significance |
| rs34432940 | 6:46,135,795 | T/C | missense variant | — |
| rs1764611808 | 6:46,135,838 | A/C | — | uncertain significance |
| rs374777514 | 6:46,135,857 | G/A | — | uncertain significance |
| rs146025312 | 6:46,135,858 | T/C | — | uncertain significance |
| rs372747904 | 6:46,135,956 | A/G | — | uncertain significance |
| rs544164939 | 6:46,138,130 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.