AK7

adenylate kinase 7

Summary

This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]

Known Variants290 total

rsidPosition (GRCh37)AllelesClassClinVar
rs56327149014:96,858,498G/A—uncertain significance
rs136213162014:96,858,513G/C—uncertain significance
rs250425875214:96,858,516G/C—uncertain significance
rs77907071614:96,858,521C/G—likely benign
rs188977544714:96,858,524G/C—likely benign
rs120157926114:96,858,535T/C—uncertain significance
rs11141910014:96,858,542C/A—benign
rs77504912214:96,858,545G/A—likely benign
rs250425913014:96,858,551G/T—likely benign
rs132597433014:96,858,573T/A—uncertain significance
rs37468224914:96,858,590C/A—likely benign
rs76168172914:96,858,591G/A—uncertain significance
rs76098568314:96,858,596G/A—uncertain significance
rs250425958314:96,858,605C/T—likely benign
rs20129596214:96,858,606G/T—likely benign
rs54798344714:96,858,612G/T—likely benign
rs19300408114:96,864,398C/G—likely benign
rs250428489114:96,864,405C/A—uncertain significance
rs14015946214:96,864,441G/A—likely benign
rs77699083114:96,864,474A/G—likely benign
rs11532493714:96,864,504T/G—likely benign
rs15107858914:96,864,511A/T—uncertain significance
rs75368465914:96,864,518T/G—uncertain significance
rs11793204914:96,864,529A/C—uncertain significance
rs14087008214:96,864,548C/T—uncertain significance
rs78174336314:96,864,549G/A—likely benign
rs77037776514:96,864,554C/G—uncertain significance
rs19970005414:96,864,571C/T—uncertain significance
rs77329307814:96,864,572G/A—conflicting classifications of pathogenicity
rs54320861714:96,864,579C/T—likely benign
rs96332673414:96,864,583G/A—uncertain significance
rs75817688814:96,864,584C/T—uncertain significance
rs37603066714:96,864,591G/C—uncertain significance
rs92724903214:96,864,592A/G—uncertain significance
rs78059247014:96,864,593C/T—uncertain significance
rs75748246914:96,864,594G/A—likely benign
rs75669793314:96,864,595T/C—uncertain significance
rs76910951214:96,864,610G/A—likely benign
rs52912017814:96,864,614G/T—likely benign
rs78127617114:96,864,616T/C—likely benign
rs149055623914:96,864,620G/T—likely benign
rs19233144714:96,867,983C/Tintron variant—
rs250431637914:96,871,094G/C—uncertain significance
rs36899578814:96,871,103C/T—uncertain significance
rs227555414:96,871,104A/G—benign
rs14493462314:96,871,109G/T—uncertain significance
rs37388306414:96,871,122G/T—uncertain significance
rs250431684514:96,871,133T/G—uncertain significance
rs74726457314:96,871,140T/A—uncertain significance
rs56583376114:96,871,153C/T—likely benign
rs189061415814:96,871,156C/T—likely benign
rs127971747114:96,871,163A/C—uncertain significance
rs76041538214:96,871,176T/G—uncertain significance
rs93170642114:96,871,201T/C—uncertain significance
rs189061843514:96,871,204T/A—uncertain significance
rs123287035814:96,871,213T/G—likely benign
rs104924761314:96,871,219C/T—likely benign
rs20147201314:96,871,222T/C—likely benign
rs75093991614:96,875,165C/T—likely benign
rs37434293914:96,875,216C/T—uncertain significance
rs214000645314:96,875,227T/G—uncertain significance
rs11461044114:96,875,235T/C—likely benign
rs250433866514:96,875,237T/C—uncertain significance
rs77481587214:96,875,238C/T—uncertain significance
rs138634608814:96,875,239G/A—likely benign
rs159537750814:96,875,251T/C—likely benign
rs75760867914:96,875,257G/A—likely benign
rs141440916914:96,875,278C/A—uncertain significance
rs37712313114:96,875,279G/A—uncertain significance
rs75847437214:96,875,282A/T—uncertain significance
rs77783781514:96,875,285A/T—likely benign
rs37048253814:96,875,286G/A—benign
rs77624988714:96,875,293A/G—likely benign
rs37129941914:96,875,295C/T—likely benign
rs11134096214:96,887,151T/C—benign
rs76955856414:96,887,154A/G—likely benign
rs13877204414:96,887,167T/C—benign
rs132945455314:96,887,177T/C—uncertain significance
rs75212625314:96,887,195C/T—uncertain significance
rs189164474014:96,887,206G/A—likely benign
rs250439714314:96,887,208C/T—uncertain significance
rs117464895814:96,887,228C/T—uncertain significance
rs75979252414:96,887,244A/T—uncertain significance
rs14804510014:96,887,256A/G—uncertain significance
rs131136737814:96,887,263A/G—likely benign
rs54918423114:96,887,269G/A—uncertain significance
rs7439406414:96,887,282T/G—benign
rs37268011414:96,904,155T/G—likely benign
rs19976014514:96,904,173C/T—likely benign
rs20133014814:96,904,193G/A—uncertain significance
rs99667995714:96,904,200C/G—uncertain significance
rs77729008014:96,904,201T/C—likely benign
rs250446707914:96,904,210C/T—likely benign
rs96855406114:96,904,219A/G—likely benign
rs13974111314:96,904,221C/T—likely benign
rs20154613014:96,904,222G/A—likely benign
rs140549712214:96,904,227G/A—uncertain significance
rs77714854914:96,904,230G/A—uncertain significance
rs74621965914:96,904,232A/G—uncertain significance
rs14744488614:96,904,243A/T—likely benign

Showing 100 of 290 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.