Product Details

SNP ID
rs139902464
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:44857788 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGATCACAGCATTGTTGCAGATGA[C/T]ACTGCCTTGGATATTGCTTCTGTAA
Phenotype
MIM: 606273
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EIF2B3 PubMed Links

Gene Details

Gene
EIF2B3
Gene Name
eukaryotic translation initiation factor 2B subunit gamma
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166588.2 1461 Intron NP_001160060.1
NM_001261418.1 1461 Intron NP_001248347.1
NM_020365.4 1461 Missense Mutation ATC,GTC I408V NP_065098.1
XM_017002745.1 1461 Intron XP_016858234.1
XM_017002746.1 1461 Intron XP_016858235.1
XM_017002747.1 1461 Missense Mutation ATC,GTC I279V XP_016858236.1

View Full Product Details