Product Details

SNP ID

rs78064372

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45117706 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGCCCTCCTTTCTTTCGATCCCC[A/C]CCGCCACAGGCGTCCTGTGCCTCTT

Phenotype

MIM: 606759 MIM: 612771 MIM: 612772

Polymorphism

A/C, Transversion 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	2880	Missense Mutation	GGG,TGG	G421W	NP_001263193.1
NM_001276265.1	2880	Missense Mutation	GGG,TGG	G376W	NP_001263194.1
NM_001276266.1	2880	Intron			NP_001263195.1
NM_001276267.1	2880	UTR 3			NP_001263196.1
NM_001276268.1	2880	UTR 3			NP_001263197.1
NM_144565.3	2880	Missense Mutation	GGG,TGG	G421W	NP_653166.2
XM_006720743.3	2880	UTR 3			XP_006720806.1
XM_006720745.1	2880	UTR 3			XP_006720808.1
XM_006720746.1	2880	UTR 3			XP_006720809.1
XM_006720747.3	2880	UTR 3			XP_006720810.1
XM_006720749.1	2880	UTR 3			XP_006720812.1
XM_006720751.3	2880	UTR 3			XP_006720814.1
XM_006720752.3	2880	UTR 3			XP_006720815.2
XM_006720754.1	2880	UTR 3			XP_006720817.1
XM_006720755.1	2880	UTR 3			XP_006720818.1
XM_011522181.2	2880	UTR 3			XP_011520483.1
XM_011522182.1	2880	UTR 3			XP_011520484.1
XM_011522183.2	2880	UTR 3			XP_011520485.1
XM_011522184.1	2880	Intron			XP_011520486.1
XM_011522185.1	2880	Intron			XP_011520487.1
XM_011522186.2	2880	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	2880	Intron			NP_997464.2
XM_017022180.1	2880	Intron			XP_016877669.1

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