NME7
NME/NM23 family member 7
Summary
This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2179490 | 1:169,109,393 | G/A | intron variant | — |
| rs10919078 | 1:169,123,119 | T/A | — | — |
| rs12745732 | 1:169,124,209 | T/A | intron variant | — |
| rs12741323 | 1:169,126,211 | G/A | intron variant | — |
| rs16861990 | 1:169,135,127 | A/C | intron variant | — |
| rs1557971409 | 1:169,138,731 | T/C | — | uncertain significance |
| rs372946555 | 1:169,138,783 | G/A | — | uncertain significance |
| rs7526721 | 1:169,159,866 | G/C | — | — |
| rs1200081 | 1:169,160,176 | G/C | — | — |
| rs545794319 | 1:169,160,343 | C/G | — | — |
| rs189707046 | 1:169,160,349 | C/A | — | — |
| rs12080100 | 1:169,175,353 | A/C | — | — |
| rs149193028 | 1:169,176,650 | C/T | intron variant | — |
| rs12047231 | 1:169,182,149 | G/A | intron variant | — |
| rs1160219035 | 1:169,199,963 | G/A | — | uncertain significance |
| rs1647577728 | 1:169,200,012 | T/C | — | uncertain significance |
| rs377259893 | 1:169,200,030 | G/A | — | uncertain significance |
| rs779802606 | 1:169,204,403 | T/C | — | uncertain significance |
| rs2526598602 | 1:169,206,908 | G/C | — | uncertain significance |
| rs7519279 | 1:169,207,361 | G/C | intron variant | — |
| rs548139960 | 1:169,223,310 | C/T | — | — |
| rs67779898 | 1:169,231,992 | G/C | intron variant | — |
| rs35375125 | 1:169,248,652 | T/A | — | — |
| rs138939685 | 1:169,256,594 | G/A | — | uncertain significance |
| rs2101895681 | 1:169,256,603 | G/C | — | uncertain significance |
| rs771711157 | 1:169,256,615 | C/T | — | uncertain significance |
| rs148704057 | 1:169,267,828 | G/A | — | uncertain significance |
| rs768450528 | 1:169,267,843 | C/A | — | uncertain significance |
| rs760966934 | 1:169,267,904 | T/C | — | uncertain significance |
| rs2526831543 | 1:169,267,906 | G/T | — | uncertain significance |
| rs140135005 | 1:169,267,994 | T/C | — | uncertain significance |
| rs3766089 | 1:169,268,812 | G/C | intron variant | — |
| rs2526848989 | 1:169,272,407 | T/C | — | uncertain significance |
| rs10800427 | 1:169,272,451 | A/T | intron variant | — |
| rs1013956788 | 1:169,279,218 | T/C | — | uncertain significance |
| rs1265420654 | 1:169,279,278 | C/T | — | uncertain significance |
| rs751117653 | 1:169,292,389 | A/T | — | uncertain significance |
| rs775653422 | 1:169,292,441 | G/C | — | uncertain significance |
| rs751123208 | 1:169,292,487 | C/T | — | uncertain significance |
| rs755169173 | 1:169,293,675 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.