Product Details

SNP ID
rs191887601
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184317481 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTACCCAGCCTCCCAGGGGGCCT[A/G]CTACATCCCTGGACAGGTGAGGCTG
Phenotype
MIM: 600495 MIM: 606223
Polymorphism
A/G, 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_001194946.1 632 Missense Mutation TAC,TGC Y110C NP_001181875.1
NM_001194947.1 632 Missense Mutation TAC,TGC Y110C NP_001181876.1
NM_001291157.1 632 Missense Mutation TAC,TGC Y63C NP_001278086.1
NM_004953.4 632 Intron NP_004944.3
NM_182917.4 632 Missense Mutation TAC,TGC Y103C NP_886553.3
NM_198241.2 632 Missense Mutation TAC,TGC Y103C NP_937884.1
NM_198242.2 632 Intron NP_937885.1
NM_198244.2 632 Missense Mutation TAC,TGC Y16C 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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