Product Details

SNP ID
rs2271840
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:179604875 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACTGCGGTGGCAGCTCTGTCTGG[C/G]CGGCCCCTTGGCACTCGCCTCGGAT
Phenotype
MIM: 611852 MIM: 603841
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MRPL47 PubMed Links

Gene Details

Gene
MRPL47
Gene Name
mitochondrial ribosomal protein L47
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020409.2 89 Intron NP_065142.2
NM_177988.1 89 Intron NP_817125.1
Gene
NDUFB5
Gene Name
NADH:ubiquinone oxidoreductase subunit B5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199957.1 89 Silent Mutation GGC,GGG G20G NP_001186886.1
NM_001199958.1 89 Silent Mutation GGC,GGG G20G NP_001186887.1
NM_002492.3 89 Silent Mutation GGC,GGG G20G NP_002483.1

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