ALKBH1

alkB homolog 1, histone H2A dioxygenase

Summary

This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]

Known Variants25 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs184069289	14:78,138,868	A/G	3 prime UTR variant	—
rs773714176	14:78,140,165	G/A	—	uncertain significance
rs2503620059	14:78,140,234	T/C	—	uncertain significance
rs147570421	14:78,140,250	C/T	—	uncertain significance
rs753665392	14:78,140,279	G/C	—	uncertain significance
rs2080190131	14:78,140,282	G/C	—	uncertain significance
rs972008706	14:78,140,304	T/C	—	uncertain significance
rs770216138	14:78,140,313	G/A	—	uncertain significance
rs2503620616	14:78,140,377	A/C	—	uncertain significance
rs747432161	14:78,140,453	C/A	—	uncertain significance
rs769008067	14:78,140,474	A/G	—	uncertain significance
rs2503623261	14:78,142,015	G/A	—	uncertain significance
rs1476687646	14:78,142,074	T/C	—	uncertain significance
rs747276077	14:78,142,177	G/A	—	uncertain significance
rs950826692	14:78,146,294	G/A	—	uncertain significance
rs118129757	14:78,158,076	T/C	upstream gene variant	—
rs374787102	14:78,161,086	G/T	—	uncertain significance
rs369190213	14:78,161,091	C/G	—	uncertain significance
rs1336002224	14:78,161,142	C/T	—	uncertain significance
rs376909666	14:78,161,202	A/G	—	uncertain significance
rs377343043	14:78,170,732	T/C	—	uncertain significance
rs145170478	14:78,170,748	T/C	—	uncertain significance
rs1024317549	14:78,170,776	A/T	—	uncertain significance
rs1487439731	14:78,170,799	C/A	—	uncertain significance
rs1035677588	14:78,174,326	C/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.