Product Details

SNP ID

rs201145565

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45134189 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCCCAGCCAGCTATGCAGATGGC[A/G]TGTACCAGCCCTTGGGAGAACCCCA

Phenotype

MIM: 606758 MIM: 612771

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DUOX1 PubMed Links

Gene Details

Gene

DUOX1

Gene Name

dual oxidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017434.4	234	Missense Mutation	ATG,GTG	M63V	NP_059130.2
NM_175940.2	234	Missense Mutation	ATG,GTG	M63V	NP_787954.1
XM_011521681.2	234	Missense Mutation	ATG,GTG	M24V	XP_011519983.1
XM_011521682.1	234	Intron			XP_011519984.1

Gene

DUOXA1

Gene Name

dual oxidase maturation factor 1

There are no transcripts associated with this gene.

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