ALDH3B2

aldehyde dehydrogenase 3 family member B2

Summary

This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]

Known Variants35 total

rsidPosition (GRCh37)AllelesClassClinVar
rs136825933511:67,430,696G/Auncertain significance
rs14010548611:67,430,723C/Tuncertain significance
rs75791643111:67,430,745C/Tuncertain significance
rs76710461711:67,430,787C/Tuncertain significance
rs18085986911:67,431,199C/Tuncertain significance
rs14701637111:67,431,887C/Tuncertain significance
rs249585462811:67,431,899G/Cuncertain significance
rs56009270411:67,431,910T/Clikely benign
rs77137611111:67,431,932C/Tuncertain significance
rs118909076211:67,431,940A/Guncertain significance
rs76262472511:67,431,941C/Tuncertain significance
rs19991812011:67,432,006T/Cuncertain significance
rs56646068011:67,432,031G/Auncertain significance
rs76118667411:67,432,768C/Tuncertain significance
rs14284255211:67,432,774C/Tuncertain significance
rs123906278611:67,432,852T/Auncertain significance
rs74629958811:67,432,894A/Tuncertain significance
rs14021562011:67,432,957C/Tlikely benign
rs75499363711:67,432,961G/Cuncertain significance
rs122487765311:67,432,962T/Guncertain significance
rs77792965211:67,432,972C/Tuncertain significance
rs128968380211:67,433,008C/Tuncertain significance
rs15045548311:67,433,013C/Tuncertain significance
rs14073857211:67,433,050C/Tuncertain significance
rs118462578411:67,433,619T/Auncertain significance
rs13996700311:67,433,650C/Tuncertain significance
rs124467469111:67,433,672G/Cuncertain significance
rs144271470511:67,433,831T/Cuncertain significance
rs75229634411:67,433,864C/Tuncertain significance
rs187103211:67,434,010C/Tintron variant
rs114067111:67,434,051C/Tuncertain significance
rs114067011:67,434,057C/Tuncertain significance
rs122134268511:67,434,097C/Guncertain significance
rs76639332511:67,434,129G/Tuncertain significance
rs18963455911:67,434,391G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.