Product Details

SNP ID

rs201712832

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:234607563 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTCCTCCTGGTAGTGGAGTGAAC[C/G]TGGTTGGCATCTTTTGAGGCATGAC

Phenotype

MIM: 615332

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

IRF2BP2 PubMed Links

Gene Details

Gene

IRF2BP2

Gene Name

interferon regulatory factor 2 binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077397.1	1369	Missense Mutation	CAC,CAG	H430Q	NP_001070865.1
NM_182972.2	1369	Missense Mutation	CAC,CAG	H446Q	NP_892017.2

View Full Product Details