Product Details

SNP ID

rs147377985

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:75253343 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTTACCTCTCTGTTTACTGGACA[G/T]TCCCCTTGATCTAATACCAAACTTA

Phenotype

MIM: 123996 MIM: 611028

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

COX7A2 PubMed Links

Gene Details

Gene

COX7A2

Gene Name

cytochrome c oxidase subunit 7A2

There are no transcripts associated with this gene.

Gene

TMEM30A

Gene Name

transmembrane protein 30A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143958.1	4015	UTR 3			NP_001137430.1
NM_018247.3	4015	UTR 3			NP_060717.1

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