C__11581599_10

SNP ID:

rs2460130

Gene

ALKBH3 SEC14L1P1

Gene Name

alkB homolog 3, alpha-ketoglutaratedependent dioxygenase

SEC14 like 1 pseudogene 1

Set Membership:

> HapMap > Validated

Chromosome Location:

Chr.11: 43898144 - 43898144 on Build GRCh38

Polymorphism:

C/T, Transition substitution

Context Sequence [VIC/FAM]:

CGTGGTGGGCATCCCTGATAACAAA[C/T]TAGATGCTGACTACATCAAGAGATA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 610603
Literature Links:	ALKBH3 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global C (0.45) (0.55)	Caucasian C (0.36) (0.64)	CEPH (CEU) C (0.33) (0.67)
EAS C (0.31) (0.69)	African American C (0.49) (0.51)	YRI (Yoruba) T (0.47) (0.53)
SAS C (0.49) (0.51)	Japanese C (0.45) (0.55)	JPT (Japanese) C (0.37) (0.63)
AFR T (0.47) (0.53)	Chinese C (0.39) (0.61)	CHB (Han Chinese) C (0.30) (0.70)
EUR C (0.33) (0.67)
AMR T (0.39) (0.61)

ALKBH3 - alkB homolog 3, alpha-ketoglutaratedependent dioxygenase
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_139178.3		Intron			NP_631917.1

SEC14L1P1 - SEC14 like 1 pseudogene 1
There are no transcripts associated with this gene.

More Information

• Set Membership: HapMap, Validated

Panther Classification:

Molecular Function -

oxygenase

Gene Ontology Categories:

Process(es)

DNA repair
DNA dealkylation involved in DNA repair
cell proliferation
oxidative single-stranded DNA demethylation
oxidative single-stranded RNA demethylation

Function(s)

protein binding
ferrous iron binding
L-ascorbic acid binding
DNA-N1-methyladenine dioxygenase activity
cytosine C-5 DNA demethylase activity
RNA N1-methyladenosine dioxygenase activity