Product Details

SNP ID

rs2292835

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.8:96231492 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCTTTTCATCTAAGTAGGAAGCAGA[A/G]TGCAGAGCTGGAACAGCAAAGACCT

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	386	Intron			NP_001186904.1
NM_001254752.1	386	Silent Mutation	CAC,CAT	H94H	NP_001241681.1
NM_006294.4	386	Intron			NP_006285.1

View Full Product Details