Product Details

SNP ID
rs78680793
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:2355408 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACCCCGAGGACTTCGTGGACGAC[C/G]TGAGCGAGGAAGGTGAGGGCGCCCG
Phenotype
MIM: 603917 MIM: 614905
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EIF3B PubMed Links

Gene Details

Gene
EIF3B
Gene Name
eukaryotic translation initiation factor 3 subunit B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037283.1 752 Missense Mutation CTG,GTG L163V NP_001032360.1
NM_003751.3 752 Missense Mutation CTG,GTG L163V NP_003742.2
XM_011515599.1 752 Missense Mutation CTG,GTG L163V XP_011513901.1
XM_011515600.1 752 Missense Mutation CTG,GTG L163V XP_011513902.1
XM_011515601.1 752 Missense Mutation CTG,GTG L124V XP_011513903.1
XM_017012752.1 752 Missense Mutation CTG,GTG L163V XP_016868241.1
XM_017012753.1 752 Missense Mutation CTG,GTG L163V XP_016868242.1
Gene
SNX8
Gene Name
sorting nexin 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013321.3 752 Intron NP_037453.1
XM_011515329.2 752 Intron XP_011513631.1
XM_011515330.1 752 Intron XP_011513632.1
XM_017012083.1 752 Intron XP_016867572.1
XM_017012084.1 752 Intron XP_016867573.1

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