Product Details

SNP ID
rs112158716
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:99696098 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCAGCGCTACGAAGACCTTGTTC[C/T]GAATGAAACTCTTAACAAAAACAGG
Phenotype
MIM: 603646 MIM: 616753
Polymorphism
C/T, 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 2162 UTR 3 NP_001307903.1
NM_001320975.1 2162 Intron NP_001307904.1
NM_001320976.1 2162 Intron NP_001307905.1
NM_004376.6 2162 Intron NP_004367.2
NM_078470.5 2162 Intron NP_510870.1
XM_006717634.3 2162 Intron XP_006717697.1
XM_011539298.2 2162 Intron XP_011537600.1
XM_017015715.1 2162 UTR 3 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 2162 Missense Mutation CCG,CTG P329L NP_065087.1

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