Product Details

SNP ID

rs2098029

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:73960702 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGAAGACCGTAAATGACAATCTC[C/T]GTACAGTGATAGAAGTATGCATAGG

Phenotype

MIM: 614647 MIM: 603162

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

COQ6 PubMed Links

Additional Information

For this assay, SNP(s) [rs115579294] are located under a probe 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

COQ6

Gene Name

coenzyme Q6, monooxygenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182476.2		Intron			NP_872282.1
NM_182480.2		Intron			NP_872286.2
XM_006720156.1		Intron			XP_006720219.1
XM_011536807.1		Intron			XP_011535109.1
XM_011536808.1		Intron			XP_011535110.1
XM_011536809.2		Intron			XP_011535111.1
XM_011536810.2		Intron			XP_011535112.1
XM_017021351.1		Intron			XP_016876840.1
XM_017021352.1		Intron			XP_016876841.1

Gene

ENTPD5

Gene Name

ectonucleoside triphosphate diphosphohydrolase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001249.3		Intron			NP_001240.1
NM_001321984.1		Intron			NP_001308913.1
NM_001321985.1		Intron			NP_001308914.1
NM_001321986.1		Intron			NP_001308915.1
NM_001321987.1		Intron			NP_001308916.1
NM_001321988.1		Intron			NP_001308917.1
XM_005268224.3		Intron			XP_005268281.1
XM_006720325.3		Intron			XP_006720388.1
XM_006720326.2		Intron			XP_006720389.1
XM_017021813.1		Intron			XP_016877302.1
XM_017021814.1		Intron			XP_016877303.1
XM_017021815.1		Intron			XP_016877304.1
XM_017021816.1		Intron			XP_016877305.1
XM_017021817.1		Intron			XP_016877306.1

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