Product Details

SNP ID

rs149767187

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45172252 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGGGTTCCCTGCAGAGAGTCGG[A/G]GAGGTAGCCGCCCCTTCTCCTCCCG

Phenotype

MIM: 606758

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DUOX1 PubMed Links

Gene Details

Gene

DUOX1

Gene Name

dual oxidase 1

There are no transcripts associated with this gene.

Gene

SHF

Gene Name

Src homology 2 domain containing F

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301168.1	1070	Missense Mutation	CCC,CTC	P305L	NP_001288097.1
NM_001301169.1	1070	Missense Mutation	CCC,CTC	P305L	NP_001288098.1
NM_001301170.1	1070	Intron			NP_001288099.1
NM_001301171.1	1070	Missense Mutation	CCC,CTC	P103L	NP_001288100.1
NM_138356.2	1070	Missense Mutation	CCC,CTC	P287L	NP_612365.2
XM_006720742.3	1070	Missense Mutation	CCC,CTC	P352L	XP_006720805.2
XM_011522174.2	1070	Missense Mutation	CCC,CTC	P352L	XP_011520476.1
XM_011522175.2	1070	Missense Mutation	CCC,CTC	P352L	XP_011520477.1
XM_011522176.2	1070	Intron			XP_011520478.1
XM_011522177.2	1070	Intron			XP_011520479.1
XM_011522178.2	1070	Intron			XP_011520480.1
XM_017022710.1	1070	Intron			XP_016878199.1
XM_017022711.1	1070	Missense Mutation	CCC,CTC	P150L	XP_016878200.1

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