Product Details

SNP ID

rs148928811

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:128942097 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCTCTGCCATGAACCAGTCCATC[C/G]CAGTGGCTCCCACCCCACCCCGCCG

Phenotype

MIM: 607218

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

IRF5 PubMed Links

Gene Details

Gene

IRF5

Gene Name

interferon regulatory factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098627.3	254	Missense Mutation	CCA,GCA	P6A	NP_001092097.2
NM_001098629.2	254	Missense Mutation	CCA,GCA	P6A	NP_001092099.1
NM_001098630.2	254	Missense Mutation	CCA,GCA	P6A	NP_001092100.1
NM_001242452.2	254	Missense Mutation	CCA,GCA	P6A	NP_001229381.1
NM_032643.4	254	Missense Mutation	CCA,GCA	P6A	NP_116032.1
XM_005250317.3	254	Missense Mutation	CCA,GCA	P6A	XP_005250374.1
XM_006715974.2	254	Missense Mutation	CCA,GCA	P6A	XP_006716037.1
XM_011516158.2	254	Missense Mutation	CCA,GCA	P6A	XP_011514460.1
XM_011516159.2	254	Missense Mutation	CCA,GCA	P6A	XP_011514461.1
XM_011516160.1	254	Missense Mutation	CCA,GCA	P6A	XP_011514462.1
XM_011516161.1	254	Missense Mutation	CCA,GCA	P6A	XP_011514463.1
XM_011516162.1	254	Missense Mutation	CCA,GCA	P6A	XP_011514464.1
XM_011516163.2	254	Missense Mutation	CCA,GCA	P6A	XP_011514465.1
XM_011516164.1	254	Missense Mutation	CCA,GCA	P6A	XP_011514466.1

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