Product Details

SNP ID
rs145828292
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:96231783 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATAAAGCTGTGCTACCTCTTCATA[G/T]TTGGTCCACTGCTCTTTAGGCAAGA
Phenotype
MIM: 616930 MIM: 191330
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MTERF3 PubMed Links

Gene Details

Gene
MTERF3
Gene Name
mitochondrial transcription termination factor 3
There are no transcripts associated with this gene.

Gene
UQCRB
Gene Name
ubiquinol-cytochrome c reductase binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199975.2 467 Missense Mutation AAA,AAC K51N NP_001186904.1
NM_001254752.1 467 Missense Mutation AAA,AAC K83N NP_001241681.1
NM_006294.4 467 Missense Mutation AAA,AAC K83N NP_006285.1

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