Product Details

SNP ID
rs150282779
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:14566174 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCCACTTCCCCGGGTCCCTGGC[C/G]TTTGGCCAACTCTGCCGCCTTCTTC
Phenotype
MIM: 603842 MIM: 610057
Polymorphism
C/G, Transversion 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_004146.5 450 Missense Mutation CGC,GGC R125G NP_004137.2
XM_011528039.2 450 Missense Mutation CGC,GGC R87G 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_001321170.1 450 Intron NP_001308099.1
NM_138501.5 450 Intron NP_612510.1
XM_006722945.1 450 Intron XP_006723008.1
XM_011528442.2 450 Intron XP_011526744.1

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