Product Details

SNP ID
rs138937878
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:14566215 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCTTCTTCTCCCGCCGCTTCTTC[C/T]GCTGGAGCAGCCTCCGCTCCCGCTC
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_004146.5 409 Missense Mutation CAG,CGG Q111R NP_004137.2
XM_011528039.2 409 Missense Mutation CAG,CGG Q73R 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_001321170.1 409 Intron NP_001308099.1
NM_138501.5 409 Intron NP_612510.1
XM_006722945.1 409 Intron XP_006723008.1
XM_011528442.2 409 Intron XP_011526744.1

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