Product Details

SNP ID

rs201244472

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45135131 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCACGTGCTTTCAGACCTGGTGA[A/G]CGTGGAAACTCCCGGCTGCCCCGCC

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	382	Missense Mutation	AAC,AGC	N112S	NP_059130.2
NM_175940.2	382	Missense Mutation	AAC,AGC	N112S	NP_787954.1
XM_011521681.2	382	Missense Mutation	AAC,AGC	N73S	XP_011519983.1
XM_011521682.1	382	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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