Product Details

SNP ID

rs72789330

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31436503 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGCTGGTACTGGGGACAGACGC[A/C]GGGCTTCGGCCAGTGTGTGCTCCTT

Phenotype

MIM: 602009 MIM: 602453

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

COX6A2 PubMed Links

Gene Details

Gene

COX6A2

Gene Name

cytochrome c oxidase subunit 6A2

There are no transcripts associated with this gene.

Gene

ITGAD

Gene Name

integrin subunit alpha D

There are no transcripts associated with this gene.

Gene

ZNF843

Gene Name

zinc finger protein 843

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136509.1	1074	Missense Mutation	CGG,CTG	R116L	NP_001129981.1

View Full Product Details