Product Details

SNP ID

rs193135919

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:99698564 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGTCAGAAGACAGGTCTGAGTCC[C/T]GACAATCCATTTCTGGATCCCTGCC

Phenotype

MIM: 603646 MIM: 616753

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

COX15 PubMed Links

Additional Information

For this assay, SNP(s) [rs369470330] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1219	Intron			NP_001307903.1
NM_001320975.1	1219	Intron			NP_001307904.1
NM_001320976.1	1219	Intron			NP_001307905.1
NM_004376.6	1219	Intron			NP_004367.2
NM_078470.5	1219	Intron			NP_510870.1
XM_006717634.3	1219	Intron			XP_006717697.1
XM_011539298.2	1219	Intron			XP_011537600.1
XM_017015715.1	1219	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	1219	Silent Mutation	CCC,CCT	P347P	NP_065087.1

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