Product Details

SNP ID

rs2873788

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.3:119660130 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CCTCAGGGAGGGTGTCCTCACGCAG[A/G]CGGTATACCAGGTGTGCCAGCTGGA

Phenotype

MIM: 604813 MIM: 605823

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COX17 PubMed Links

Gene Details

Gene

COX17

Gene Name

COX17, cytochrome c oxidase copper chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005694.1	461	Intron			NP_005685.1

Gene

POPDC2

Gene Name

popeye domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308333.1	461	Silent Mutation	CGC,CGT	R98R	NP_001295262.1
NM_022135.3	461	Silent Mutation	CGC,CGT	R98R	NP_071418.2
XM_005247698.3	461	Silent Mutation	CGC,CGT	R98R	XP_005247755.1

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