Product Details

SNP ID
rs199838059
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:138513635 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTGTGTTTCCTTGGAGTGTGCC[A/G]AAAAGTGCACCACTACCATCTATTA
Phenotype
MIM: 600285
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ETF1 PubMed Links

Gene Details

Gene
ETF1
Gene Name
eukaryotic translation termination factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256302.1 895 Silent Mutation TTC,TTT F125F NP_001243231.1
NM_001282185.1 895 Silent Mutation TTC,TTT F144F NP_001269114.1
NM_001291974.1 895 Silent Mutation TTC,TTT F125F NP_001278903.1
NM_001291975.1 895 Silent Mutation TTC,TTT F125F NP_001278904.1
NM_004730.3 895 Silent Mutation TTC,TTT F158F NP_004721.1
XM_005271921.1 895 Silent Mutation TTC,TTT F125F XP_005271978.1
XM_017009221.1 895 Silent Mutation TTC,TTT F158F XP_016864710.1
XM_017009222.1 895 Missense Mutation TCG,TTG S7L XP_016864711.1

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