Product Details

SNP ID

rs115777201

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:209788565 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGTCTGGGGTTGAGATCTGCAGG[C/T]GGACACTGCCACTATCAAAGGATCG

Phenotype

MIM: 607199 MIM: 608255

Polymorphism

C/T, 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	1314	Missense Mutation	CAC,CGC	H325R	NP_001193625.1
NM_006147.3	1314	Missense Mutation	CAC,CGC	H420R	NP_006138.1

Gene

TRAF3IP3

Gene Name

TRAF3 interacting protein 3

There are no transcripts associated with this gene.

View Full Product Details