Product Details

SNP ID
rs200871576
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:119660231 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCACTGAACCAGCCCCACAGCA[C/T]GCAGCACAGGTAACCTGCACTCAGG
Phenotype
MIM: 604813 MIM: 605823
Polymorphism
C/T, 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_005694.1 360 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_001308333.1 360 Missense Mutation NP_001295262.1
NM_022135.3 360 Missense Mutation NP_071418.2
XM_005247698.3 360 Missense Mutation XP_005247755.1

View Full Product Details