Product Details

SNP ID

rs199658474

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:75243725 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGAGAAGCTCCTCACCAGCAGAT[A/T]CCGCAGCATCTTGGCTGTTACTGAC

Phenotype

MIM: 123996 MIM: 611028

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

COX7A2 PubMed Links

Gene Details

Gene

COX7A2

Gene Name

cytochrome c oxidase subunit 7A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001865.3	204	Missense Mutation	AAT,TAT	N36Y	NP_001856.2

Gene

TMEM30A

Gene Name

transmembrane protein 30A

There are no transcripts associated with this gene.

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