Product Details

SNP ID

rs201857248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:132484464 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAGTAGGTACCCCTTCCCATCCA[C/T]GTTTGTTGGCTGCCACTCCGACTGC

Phenotype

MIM: 147575

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C5orf56 PubMed Links

Gene Details

Gene

C5orf56

Gene Name

chromosome 5 open reading frame 56

There are no transcripts associated with this gene.

Gene

IRF1

Gene Name

interferon regulatory factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002198.2	862	Missense Mutation	ATG,GTG	M251V	NP_002189.1
XM_011543378.2	862	Missense Mutation	ATG,GTG	M210V	XP_011541680.1
XM_011543379.2	862	Missense Mutation	ATG,GTG	M167V	XP_011541681.1

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