Product Details

SNP ID

rs202031475

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:209788506 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCCTGGGTTTGAAGGATGCGGT[A/G]CAGCTGCTTCAGCTGAGCAACGATG

Phenotype

MIM: 607199 MIM: 608255

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C1orf74 PubMed Links

Gene Details

Gene

C1orf74

Gene Name

chromosome 1 open reading frame 74

There are no transcripts associated with this gene.

Gene

IRF6

Gene Name

interferon regulatory factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206696.1	1373	Missense Mutation	CAC,TAC	H345Y	NP_001193625.1
NM_006147.3	1373	Missense Mutation	CAC,TAC	H440Y	NP_006138.1

Gene

TRAF3IP3

Gene Name

TRAF3 interacting protein 3

There are no transcripts associated with this gene.

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