Product Details

SNP ID

rs112166546

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45117770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTGAGTCTCCAGTATGTTCGGC[C/T]CAGCGCTCTTCGCACCCTTCTGGAC

Phenotype

MIM: 606759 MIM: 612771 MIM: 612772

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DUOX2 PubMed Links

Gene Details

Gene

DUOX2

Gene Name

dual oxidase 2

There are no transcripts associated with this gene.

Gene

DUOXA1

Gene Name

dual oxidase maturation factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276264.1	1160	Nonsense Mutation	TGA,TGG	*399W	NP_001263193.1
NM_001276265.1	1160	Nonsense Mutation	TGA,TGG	*354W	NP_001263194.1
NM_001276266.1	1160	Intron			NP_001263195.1
NM_001276267.1	1160	UTR 3			NP_001263196.1
NM_001276268.1	1160	UTR 3			NP_001263197.1
NM_144565.3	1160	Nonsense Mutation	TGA,TGG	*399W	NP_653166.2
XM_006720743.3	1160	UTR 3			XP_006720806.1
XM_006720745.1	1160	UTR 3			XP_006720808.1
XM_006720746.1	1160	UTR 3			XP_006720809.1
XM_006720747.3	1160	UTR 3			XP_006720810.1
XM_006720749.1	1160	UTR 3			XP_006720812.1
XM_006720751.3	1160	UTR 3			XP_006720814.1
XM_006720752.3	1160	UTR 3			XP_006720815.2
XM_006720754.1	1160	UTR 3			XP_006720817.1
XM_006720755.1	1160	UTR 3			XP_006720818.1
XM_011522181.2	1160	UTR 3			XP_011520483.1
XM_011522182.1	1160	UTR 3			XP_011520484.1
XM_011522183.2	1160	UTR 3			XP_011520485.1
XM_011522184.1	1160	Intron			XP_011520486.1
XM_011522185.1	1160	Intron			XP_011520487.1
XM_011522186.2	1160	Intron			XP_011520488.1

Gene

DUOXA2

Gene Name

dual oxidase maturation factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207581.3	1160	Missense Mutation	CCC,CTC	P275L	NP_997464.2
XM_017022180.1	1160	Missense Mutation	CCC,CTC	P292L	XP_016877669.1

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