Product Details

SNP ID
rs144753546
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:75003074 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACCCTGAAGCGGGGTGGTGGGCC[C/G]CGCAGCTCCGAGGAAATGGCTCGGG
Phenotype
MIM: 606454
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EIF2B2 PubMed Links

Gene Details

Gene
EIF2B2
Gene Name
eukaryotic translation initiation factor 2B subunit beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014239.3 166 Silent Mutation CCC,CCG P28P NP_055054.1

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