Product Details

SNP ID
rs201617348
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:44857781 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCTTCTCGATCACAGCATTGTTG[C/G]AGATGACACTGCCTTGGATATTGCT
Phenotype
MIM: 606273
Polymorphism
C/G, Transversion 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 1468 Intron NP_001160060.1
NM_001261418.1 1468 Intron NP_001248347.1
NM_020365.4 1468 Missense Mutation TCC,TGC S410C NP_065098.1
XM_017002745.1 1468 Intron XP_016858234.1
XM_017002746.1 1468 Intron XP_016858235.1
XM_017002747.1 1468 Missense Mutation TCC,TGC S281C XP_016858236.1

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