Product Details

SNP ID
rs200275950
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:138512871 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCCAGAAATAAACAGCTGCACAG[A/C]AGTCTCTGCTACTTTCCGAACATAG
Phenotype
MIM: 600285
Polymorphism
A/C, Transversion 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 1046 Missense Mutation GCT,TCT A176S NP_001243231.1
NM_001282185.1 1046 Missense Mutation GCT,TCT A195S NP_001269114.1
NM_001291974.1 1046 Missense Mutation GCT,TCT A176S NP_001278903.1
NM_001291975.1 1046 Missense Mutation GCT,TCT A176S NP_001278904.1
NM_004730.3 1046 Missense Mutation GCT,TCT A209S NP_004721.1
XM_005271921.1 1046 Missense Mutation GCT,TCT A176S XP_005271978.1
XM_017009221.1 1046 Missense Mutation GCT,TCT A209S XP_016864710.1
XM_017009222.1 1046 Intron XP_016864711.1

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