Product Details

SNP ID

rs139851271

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:96231932 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCCTCGTATATTGTATCATCTC[A/G]CATTAACCCTATGATAGATGACAAA

Phenotype

MIM: 616930 MIM: 191330

Polymorphism

A/G, 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	318	Nonsense Mutation	CGA,TGA	R2*	NP_001186904.1
NM_001254752.1	318	Nonsense Mutation	CGA,TGA	R34*	NP_001241681.1
NM_006294.4	318	Nonsense Mutation	CGA,TGA	R34*	NP_006285.1

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