Product Details

SNP ID
rs202012552
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:14566198 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTGGCCAACTCTGCCGCCTTCT[C/T]CTCCCGCCGCTTCTTCCGCTGGAGC
Phenotype
MIM: 603842 MIM: 610057
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NDUFB7 PubMed Links

Gene Details

Gene
NDUFB7
Gene Name
NADH:ubiquinone oxidoreductase subunit B7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004146.5 426 Missense Mutation AAG,GAG K117E NP_004137.2
XM_011528039.2 426 Missense Mutation AAG,GAG K79E XP_011526341.1
Gene
TECR
Gene Name
trans-2,3-enoyl-CoA reductase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321170.1 426 Intron NP_001308099.1
NM_138501.5 426 Intron NP_612510.1
XM_006722945.1 426 Intron XP_006723008.1
XM_011528442.2 426 Intron XP_011526744.1

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