C___8803217_10

SNP ID:

rs938132

Gene

DUOX1 DUOXA1

Gene Name

dual oxidase 1

dual oxidase maturation factor 1

Set Membership:

> HapMap

Chromosome Location:

Chr.15: 45132857 - 45132857 on Build GRCh38

Polymorphism:

A/G, Transition substitution

Context Sequence [VIC/FAM]:

AAAGGCTCTCTCCTTTATGTGCCAC[A/G]GGTTCATTTTATTTTAGAGATCACA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 606758 MIM: 612771
Literature Links:	DUOX1 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global G (0.49) (0.51)	Caucasian - Not Available	CEPH (CEU) A (0.26) (0.74)
EAS A (0.40) (0.60)	African American - Not Available	YRI (Yoruba) G (0.09) (0.91)
SAS A (0.50) (0.50)	Chinese - Not Available	JPT (Japanese) G (0.49) (0.51)
AFR G (0.12) (0.88)	Japanese - Not Available	CHB (Han Chinese) A (0.43) (0.57)
EUR A (0.26) (0.74)
AMR A (0.34) (0.66)

DUOX1 - dual oxidase 1
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_017434.4		Intron			NP_059130.2
NM_175940.2		Intron			NP_787954.1
XM_011521681.2		Intron			XP_011519983.1
XM_011521682.1		Intron			XP_011519984.1

DUOXA1 - dual oxidase maturation factor 1
There are no transcripts associated with this gene.

More Information

• Set Membership: HapMap

Panther Classification:

Molecular Function -

oxidase

Gene Ontology Categories:

Process(es)

thyroid hormone generation
response to oxidative stress
cytokine-mediated signaling pathway
cuticle development
hormone biosynthetic process
superoxide anion generation
hydrogen peroxide catabolic process
hydrogen peroxide biosynthetic process
response to cAMP
oxidation-reduction process
cellular oxidant detoxification

Function(s)

peroxidase activity
calcium ion binding
NAD(P)H oxidase activity
heme binding
NADP binding