Product Details

SNP ID
rs113810947
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184317384 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCTCCCGAGTGCAGAGTGCAGCC[C/T]CTGCCCGCCCTGGCCCAGCTGCCCA
Phenotype
MIM: 600495 MIM: 606223
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EIF4G1 PubMed Links

Gene Details

Gene
EIF4G1
Gene Name
eukaryotic translation initiation factor 4 gamma 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001194946.1 535 Missense Mutation CCT,TCT P78S NP_001181875.1
NM_001194947.1 535 Missense Mutation CCT,TCT P78S NP_001181876.1
NM_001291157.1 535 Missense Mutation CCT,TCT P31S NP_001278086.1
NM_004953.4 535 Intron NP_004944.3
NM_182917.4 535 Missense Mutation CCT,TCT P71S NP_886553.3
NM_198241.2 535 Missense Mutation CCT,TCT P71S NP_937884.1
NM_198242.2 535 Intron NP_937885.1
NM_198244.2 535 UTR 5 NP_937887.1
Gene
PSMD2
Gene Name
proteasome 26S subunit, non-ATPase 2
There are no transcripts associated with this gene.

Gene
SNORD66
Gene Name
small nucleolar RNA, C/D box 66
There are no transcripts associated with this gene.

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