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SNP ID: rs17094161
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:73950133 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: CCACCCCTTTCTAGCTTTGGCGTCT[A/G]GTTGGCTTCCAGGGCAGCCTCCGAT
Phenotype: MIM: 614647 MIM: 603162
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: COQ6 PubMed Links

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	200	Intron			NP_872282.1
NM_182480.2	200	Nonsense Mutation	TAG,TGG	*14W	NP_872286.2
XM_006720156.1	200	Intron			XP_006720219.1
XM_011536807.1	200	Intron			XP_011535109.1
XM_011536808.1	200	Intron			XP_011535110.1
XM_011536809.2	200	UTR 5			XP_011535111.1
XM_011536810.2	200	Intron			XP_011535112.1
XM_017021351.1	200	Intron			XP_016876840.1
XM_017021352.1	200	Intron			XP_016876841.1

Gene: ENTPD5
Gene Name: ectonucleoside triphosphate diphosphohydrolase 5

There are no transcripts associated with this gene.

Gene: FAM161B
Gene Name: family with sequence similarity 161 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152445.2	200	Missense Mutation	CCA,CTA	P28L	NP_689658.2
XM_011536475.1	200	Missense Mutation	CCA,CTA	P28L	XP_011534777.1

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