Product Details

SNP ID
rs12982527
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5893214 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCATGCCTATAATCCCAGCACT[C/T]TGGGAGGCTGAGGTGTGAGGACTGC
Phenotype
MIM: 612638
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NDUFA11 PubMed Links

Gene Details

Gene
NDUFA11
Gene Name
NADH:ubiquinone oxidoreductase subunit A11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193375.1 695 Silent Mutation CAA,CAG Q130Q NP_001180304.1
NM_175614.4 695 Intron NP_783313.1

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