Product Details

SNP ID
rs2269194
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:99697398 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CATTAGCTGCTGTGCTTCCTTTTCC[A/G]TTTTCTTCTTTTGTTCTACTCCTTT
Phenotype
MIM: 603646 MIM: 616753
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COX15 PubMed Links

Gene Details

Gene
COX15
Gene Name
COX15, cytochrome c oxidase assembly homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320974.1 Intron NP_001307903.1
NM_001320975.1 Intron NP_001307904.1
NM_001320976.1 Intron NP_001307905.1
NM_004376.6 Intron NP_004367.2
NM_078470.5 Intron NP_510870.1
XM_006717634.3 Intron XP_006717697.1
XM_011539298.2 Intron XP_011537600.1
XM_017015715.1 Intron XP_016871204.1
Gene
ENTPD7
Gene Name
ectonucleoside triphosphate diphosphohydrolase 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020354.3 Intron NP_065087.1

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