GOT2

glutamic-oxaloacetic transaminase 2

Summary

Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

Known Variants105 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77224932816:58,742,090G/A—likely benign
rs215209284516:58,742,112C/T—uncertain significance
rs76507979116:58,742,117G/A—likely benign
rs11522007716:58,742,120G/A—benign
rs105430287116:58,742,124G/C—uncertain significance
rs250681992116:58,742,129G/A—likely benign
rs204461853216:58,742,154T/C—uncertain significance
rs78068351516:58,742,188G/A—likely benign
rs15122554516:58,742,190C/T—conflicting classifications of pathogenicity
rs14130203816:58,742,191G/A—likely benign
rs18844825516:58,742,205G/C—benign
rs98082622616:58,742,212G/T—likely benign
rs250682023916:58,742,214A/C—likely benign
rs250682227116:58,743,311A/C—likely benign
rs102137506416:58,743,321C/T—uncertain significance
rs100737088416:58,743,340G/A—uncertain significance
rs74708207116:58,743,365C/T—uncertain significance
rs11565976516:58,743,366G/A—benign
rs145904241216:58,743,376T/C—uncertain significance
rs159769604716:58,743,394C/A—likely pathogenic
rs15012236716:58,743,401T/C—benign
rs75339492416:58,743,407G/A—uncertain significance
rs75468465616:58,743,409T/C—uncertain significance
rs11294377316:58,743,422G/C—uncertain significance
rs14882863416:58,743,442C/T—uncertain significance
rs146550711516:58,743,443G/A—uncertain significance
rs3084216:58,743,454A/C—benign
rs123320508016:58,743,484C/T—likely benign
rs20192994216:58,743,486T/C—benign
rs124750735916:58,749,928G/C—likely pathogenic
rs75907804716:58,749,949T/C—uncertain significance
rs37500584516:58,749,963C/T—uncertain significance
rs13848248416:58,749,965G/C—benign
rs250683381316:58,750,013C/G—uncertain significance
rs37125909716:58,750,029C/T—uncertain significance
rs78113048016:58,750,044G/A—uncertain significance
rs36839736916:58,750,057C/G—uncertain significance
rs11762889516:58,750,551G/A—benign
rs77244124216:58,750,570A/G—uncertain significance
rs105819216:58,750,604G/A—benign
rs77718067116:58,750,617C/T—uncertain significance
rs75292752016:58,750,636G/C—likely pathogenic
rs250683591016:58,750,698A/C—uncertain significance
rs75826573216:58,750,700C/T—likely benign
rs75447136816:58,750,701G/A—uncertain significance
rs36886078116:58,750,726G/A—likely benign
rs37235004016:58,750,737C/T—likely benign
rs37376713116:58,752,081G/C—benign
rs37672914916:58,752,090T/C—likely benign
rs20211263816:58,752,132C/T—uncertain significance
rs13923530716:58,752,137T/C—benign
rs204471105216:58,752,140G/A—uncertain significance
rs204471110116:58,752,145C/T—likely benign
rs18107676516:58,752,151C/T—likely benign
rs148584725116:58,752,152G/T—uncertain significance
rs204471162516:58,752,200A/G—uncertain significance
rs250683976616:58,752,412C/T—likely benign
rs14007325816:58,752,413T/C—benign
rs14998843516:58,752,439C/T—uncertain significance
rs14741808416:58,752,444A/G—uncertain significance
rs20108315216:58,752,448C/T—uncertain significance
rs37153236816:58,752,459T/A—uncertain significance
rs1107625616:58,752,466C/T—benign
rs77350223016:58,752,489C/T—uncertain significance
rs7878424616:58,752,568C/T—benign
rs37047353716:58,752,606C/T—likely benign
rs75895468516:58,753,083G/C—likely benign
rs204472017116:58,753,090C/T—likely benign
rs20064152516:58,753,097C/T—likely benign
rs37286915216:58,753,178C/T—likely benign
rs57459715716:58,753,179G/A—likely benign
rs1293275116:58,753,995C/Tintron variant—
rs75729269316:58,756,057G/T—likely benign
rs7533612016:58,756,075G/A—benign
rs15084286616:58,756,078G/A—likely benign
rs14004567116:58,756,096T/G—uncertain significance
rs76811542816:58,756,155A/C—uncertain significance
rs13790575816:58,756,164C/A—uncertain significance
rs14142498316:58,756,165G/A—likely benign
rs13927293116:58,756,182C/A—uncertain significance
rs13895220616:58,757,654C/T—uncertain significance
rs20174400616:58,757,655G/A—uncertain significance
rs53793573416:58,757,658C/T—uncertain significance
rs76553738916:58,757,663G/A—uncertain significance
rs1422116:58,757,668A/C—benign
rs14471624616:58,757,670C/T—uncertain significance
rs118825681216:58,757,678T/C—uncertain significance
rs25763616:58,757,683A/G—benign
rs76815898916:58,757,693C/T—uncertain significance
rs55715011716:58,757,694G/A—conflicting classifications of pathogenicity
rs805944116:58,757,695G/A—benign
rs76145366816:58,757,803G/C—likely benign
rs95533807316:58,757,810A/T—likely benign
rs1260027716:58,759,332C/Gintron variant—
rs142424516:58,763,830T/G——
rs1292166716:58,767,848G/Acoding sequence variant—
rs56831817616:58,768,039C/T—likely benign
rs76325597216:58,768,051T/C—uncertain significance
rs76445634416:58,768,053G/T—uncertain significance
rs133384773716:58,768,078G/A—uncertain significance

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.