Product Details

SNP ID
rs113994032
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27366881 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCGGCTGTCCACCACTACCACCC[G/A]AAACCGCCGGCCCTCTGTCCAAGCC
Phenotype
MIM: 606687 MIM: 604883 MIM: 605963
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
EIF2B4 PubMed Links

Gene Details

Gene
EIF2B4
Gene Name
eukaryotic translation initiation factor 2B subunit delta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001034116.1 1209 Missense Mutation CGG,TGG R357W NP_001029288.1
NM_001318965.1 1209 Missense Mutation CGG,TGG R378W NP_001305894.1
NM_001318966.1 1209 Missense Mutation CGG,TGG R342W NP_001305895.1
NM_001318967.1 1209 Missense Mutation CGG,TGG R326W NP_001305896.1
NM_001318968.1 1209 Missense Mutation CGG,TGG R162W NP_001305897.1
NM_001318969.1 1209 Missense Mutation CGG,TGG R151W NP_001305898.1
NM_015636.3 1209 Missense Mutation CGG,TGG R356W NP_056451.3
NM_172195.3 1209 Missense Mutation CGG,TGG R377W NP_751945.2
XM_006712132.1 1209 Missense Mutation CGG,TGG R341W XP_006712195.1
XM_011533147.2 1209 Missense Mutation CGG,TGG R151W XP_011531449.1
Gene
GTF3C2
Gene Name
general transcription factor IIIC subunit 2
There are no transcripts associated with this gene.

Gene
LOC105374363
Gene Name
uncharacterized LOC105374363
There are no transcripts associated with this gene.

Gene
SNX17
Gene Name
sorting nexin 17
There are no transcripts associated with this gene.

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