Product Details

SNP ID

rs150378190

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:99891960 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCACGAATGCTACAGCCATATGA[C/T]TTCGCAGACGCCTGGCCAGAAGGCC

Phenotype

MIM: 124090

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COX6C PubMed Links

Gene Details

Gene

COX6C

Gene Name

cytochrome c oxidase subunit 6C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004374.3	469	Missense Mutation	AAT,AGT	N21S	NP_004365.1
XM_017013020.1	469	Intron			XP_016868509.1

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