Product Details

SNP ID

rs139480685

Assay Type

Functionally Tested

NCBI dbSNP Submissions

12

Location

Chr.1:226945529 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCGATTGCCCGGTAAGCTGAAG[A/G]TGGTTACTGTTTGACACGTGCTTGA

Phenotype

MIM: 606980

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

COQ8A PubMed Links

Additional Information

For this assay, SNP(s) [rs150516847] 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

COQ8A

Gene Name

coenzyme Q8A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020247.4		Intron			NP_064632.2
XM_005273201.1		Intron			XP_005273258.1
XM_011544238.1		Intron			XP_011542540.1
XM_011544239.2		Intron			XP_011542541.1
XM_011544240.2		Intron			XP_011542542.1
XM_011544241.2		Intron			XP_011542543.1
XM_017001852.1		Intron			XP_016857341.1

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