AK5
adenylate kinase 5
Summary
This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2524171932 | 1:77,748,045 | C/T | — | uncertain significance |
| rs1397852383 | 1:77,752,737 | A/G | — | uncertain significance |
| rs2524197371 | 1:77,752,760 | G/T | — | uncertain significance |
| rs751153431 | 1:77,752,792 | G/A | — | uncertain significance |
| rs747264984 | 1:77,759,510 | C/T | — | uncertain significance |
| rs377402236 | 1:77,759,520 | G/A | — | uncertain significance |
| rs147092224 | 1:77,759,590 | G/A | — | likely benign |
| rs757530766 | 1:77,759,612 | A/G | — | uncertain significance |
| rs2815312 | 1:77,761,377 | C/T | intron variant | — |
| rs2524248035 | 1:77,763,315 | G/A | — | uncertain significance |
| rs2524248270 | 1:77,763,346 | G/A | — | uncertain significance |
| rs1167206 | 1:77,763,542 | G/A | — | benign |
| rs2602929 | 1:77,801,696 | T/C | intron variant | — |
| rs772222794 | 1:77,806,113 | A/G | — | uncertain significance |
| rs565780075 | 1:77,806,158 | G/A | — | uncertain significance |
| rs748999053 | 1:77,806,248 | A/G | — | uncertain significance |
| rs7532748 | 1:77,819,015 | T/G | — | — |
| rs3911295 | 1:77,838,907 | T/G | — | — |
| rs2524767321 | 1:77,876,667 | T/G | — | uncertain significance |
| rs946277995 | 1:77,876,731 | A/T | — | uncertain significance |
| rs777767887 | 1:77,883,351 | T/C | — | uncertain significance |
| rs1532507 | 1:77,883,412 | C/T | — | benign |
| rs142666911 | 1:77,905,395 | T/C | intron variant | — |
| rs3112826 | 1:77,916,647 | G/A | intron variant | — |
| rs11162351 | 1:77,944,732 | C/A | — | — |
| rs751444639 | 1:77,949,003 | G/T | — | uncertain significance |
| rs780834155 | 1:77,949,012 | A/G | — | uncertain significance |
| rs7515509 | 1:77,949,123 | G/A | intron variant | — |
| rs12034334 | 1:77,954,397 | G/T | — | — |
| rs34140909 | 1:77,960,612 | G/A | intron variant | — |
| rs60708769 | 1:77,971,956 | T/G | intron variant | — |
| rs2133204 | 1:77,974,484 | G/A | intron variant | — |
| rs2133203 | 1:77,974,530 | C/A | — | — |
| rs7514937 | 1:77,981,099 | C/A | regulatory region variant | — |
| rs12753797 | 1:77,981,959 | G/A | intron variant | — |
| rs753242028 | 1:77,984,326 | G/C | — | uncertain significance |
| rs773232937 | 1:77,984,392 | C/T | — | uncertain significance |
| rs148262226 | 1:77,987,514 | C/T | — | likely benign |
| rs759165576 | 1:77,987,518 | G/A | — | likely benign |
| rs1206614543 | 1:77,987,544 | G/A | — | uncertain significance |
| rs150764329 | 1:77,987,557 | G/A | — | uncertain significance |
| rs866311885 | 1:77,987,584 | G/A | — | uncertain significance |
| rs140295986 | 1:77,987,593 | C/T | — | uncertain significance |
| rs369967441 | 1:77,987,620 | G/C | — | uncertain significance |
| rs765399590 | 1:78,001,607 | C/T | — | uncertain significance |
| rs367716253 | 1:78,001,634 | A/G | — | uncertain significance |
| rs1658943246 | 1:78,001,698 | A/T | — | uncertain significance |
| rs6675743 | 1:78,024,284 | C/T | — | benign |
| rs1189036656 | 1:78,024,308 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.