CHKB

choline kinase beta

Summary

Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]

Known Variants332 total

rsidPosition (GRCh37)AllelesClassClinVar
rs577091722:51,017,353T/Cdownstream gene variantbenign
rs318087222:51,017,394G/C—benign
rs4128153322:51,017,402A/C—uncertain significance
rs105696422:51,017,476A/G—benign
rs11274276522:51,017,484G/A—uncertain significance
rs1700163422:51,017,514C/G—likely benign
rs252276874422:51,017,619G/C—likely benign
rs98068355222:51,017,625G/A—likely benign
rs122573334822:51,017,629C/T—uncertain significance
rs138949404522:51,017,638T/G—uncertain significance
rs14028903722:51,017,641C/T—uncertain significance
rs140459162922:51,017,651G/C—uncertain significance
rs144616466622:51,017,661C/T—likely benign
rs76929832522:51,017,665A/T—uncertain significance
rs76684867222:51,017,669G/A—uncertain significance
rs75195864222:51,017,677G/A—uncertain significance
rs141569283522:51,017,684C/G—uncertain significance
rs88605763822:51,017,687A/C—uncertain significance
rs15112309222:51,017,690G/A—conflicting classifications of pathogenicity
rs75628957122:51,017,698C/T—uncertain significance
rs76267722:51,017,713G/A—benign
rs18535326522:51,017,774C/T—likely benign
rs76267622:51,017,794A/G—benign
rs76085863922:51,017,851T/A—uncertain significance
rs37207894822:51,017,857A/T—uncertain significance
rs75407728522:51,017,858G/A—likely benign
rs252277063522:51,017,861A/C—likely benign
rs252277071822:51,017,880A/G—uncertain significance
rs74795138422:51,017,882G/C—likely benign
rs76675325622:51,017,883G/A—uncertain significance
rs75580184022:51,017,886G/A—uncertain significance
rs77743445422:51,017,888C/T—likely benign
rs207062651022:51,017,904A/G—uncertain significance
rs207062695122:51,017,916A/G—uncertain significance
rs77261650522:51,017,931G/A—uncertain significance
rs155589428922:51,017,938T/C—likely pathogenic
rs76115579422:51,017,940G/C—likely benign
rs139720923022:51,017,946G/A—likely benign
rs77700984722:51,017,947G/A—likely benign
rs137284581322:51,017,956A/G—likely benign
rs74746429722:51,018,136C/T—likely benign
rs155589432622:51,018,141C/T—likely benign
rs76218608722:51,018,142C/A—likely benign
rs77727793822:51,018,144C/T—conflicting classifications of pathogenicity
rs77320376422:51,018,147C/T—likely benign
rs147227312822:51,018,148T/G—likely benign
rs75117607922:51,018,153C/G—conflicting classifications of pathogenicity
rs13807449722:51,018,157G/A—uncertain significance
rs131233808122:51,018,159C/T—uncertain significance
rs75689359222:51,018,169C/G—uncertain significance
rs252277308722:51,018,175A/C—uncertain significance
rs55973649322:51,018,179T/A—uncertain significance
rs37433740622:51,018,181C/T—uncertain significance
rs214665207522:51,018,184C/A—pathogenic
rs78098385222:51,018,186A/G—uncertain significance
rs74758699722:51,018,196G/C—uncertain significance
rs76927325922:51,018,197C/T—likely benign
rs14138189622:51,018,204T/C—conflicting classifications of pathogenicity
rs37135572122:51,018,207G/A—uncertain significance
rs77104731722:51,018,217C/G—uncertain significance
rs14321892822:51,018,226T/C—uncertain significance
rs76399365322:51,018,237A/T—uncertain significance
rs207064109522:51,018,241A/G—uncertain significance
rs19964136722:51,018,243T/C—uncertain significance
rs57795390022:51,018,246C/T—uncertain significance
rs20091960422:51,018,247G/A—conflicting classifications of pathogenicity
rs75798360322:51,018,250T/C—uncertain significance
rs75109313722:51,018,263C/T—likely benign
rs36953229022:51,018,264G/A—likely benign
rs77793296922:51,018,266T/A—likely benign
rs77104090422:51,018,270T/C—likely benign
rs77446126422:51,018,275A/G—likely benign
rs37376359522:51,018,278A/T—likely benign
rs144159827422:51,018,279G/T—likely benign
rs54917147622:51,018,393G/C—conflicting classifications of pathogenicity
rs37563922922:51,018,394C/G—likely benign
rs144258054422:51,018,395C/T—likely benign
rs13905955222:51,018,405G/A—pathogenic
rs156905266222:51,018,406C/T—likely benign
rs38790706922:51,018,408G/Astop gainedpathogenic
rs144359474122:51,018,418G/T—likely benign
rs141004488522:51,018,420G/T—uncertain significance
rs14306103122:51,018,422T/C—conflicting classifications of pathogenicity
rs77554737822:51,018,425T/A—uncertain significance
rs14748552722:51,018,428G/A—conflicting classifications of pathogenicity
rs37020217222:51,018,437G/A—uncertain significance
rs252277522422:51,018,448A/G—likely benign
rs76622570622:51,018,457C/A—uncertain significance
rs37454410522:51,018,459C/T—uncertain significance
rs14002088922:51,018,460G/T—uncertain significance
rs156905273222:51,018,470T/G—uncertain significance
rs76447406222:51,018,474A/G—uncertain significance
rs75432774422:51,018,477C/A—conflicting classifications of pathogenicity
rs76083390822:51,018,487A/G—likely benign
rs147544377522:51,018,496C/T—likely benign
rs207065114522:51,018,508G/A—likely benign
rs155589446922:51,018,509C/T—uncertain significance
rs53158137022:51,018,516G/A—likely benign
rs122136193722:51,018,519A/C—likely benign
rs36896064922:51,018,520A/G—likely benign

Showing 100 of 332 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.