Product Details

SNP ID
rs199692911
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184320946 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAGACGGGAGGCGGTCTGGAGC[C/T]TCAAGCTAATGGGGAGACGCCCCAG
Phenotype
MIM: 600495
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_001194946.1 974 Missense Mutation CCT,CTT P224L NP_001181875.1
NM_001194947.1 974 Missense Mutation CCT,CTT P224L NP_001181876.1
NM_001291157.1 974 Missense Mutation CCT,CTT P177L NP_001278086.1
NM_004953.4 974 Missense Mutation CCT,CTT P21L NP_004944.3
NM_182917.4 974 Missense Mutation CCT,CTT P217L NP_886553.3
NM_198241.2 974 Missense Mutation CCT,CTT P217L NP_937884.1
NM_198242.2 974 Missense Mutation CCT,CTT P53L NP_937885.1
NM_198244.2 974 Missense Mutation CCT,CTT P130L NP_937887.1
Gene
SNORD66
Gene Name
small nucleolar RNA, C/D box 66
There are no transcripts associated with this gene.

View Full Product Details