Product Details

SNP ID

rs34142481

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:96231112 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCCCGAATAACCTCTTTCAGATA[C/T]GGTTCAAGGTAGAAATTTTCCTAAA

Phenotype

MIM: 616930 MIM: 191330

Polymorphism

C/T, Transition 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	497	Silent Mutation	CCA,CCG	P61P	NP_001186904.1
NM_001254752.1	497	Missense Mutation	CAT,CGT	H139R	NP_001241681.1
NM_006294.4	497	Silent Mutation	CCA,CCG	P93P	NP_006285.1

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