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SNP ID: rs73301413
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:73950154 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCTGGTTGGCTTCCAGGGCAGCCT[C/T]CGATCCATCCCGCCCGAGGAGGCAA
Phenotype: MIM: 614647 MIM: 603162
Polymorphism: C/T, 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	221	Intron			NP_872282.1
NM_182480.2	221	Missense Mutation	TCC,TTC	S21F	NP_872286.2
XM_006720156.1	221	Intron			XP_006720219.1
XM_011536807.1	221	Intron			XP_011535109.1
XM_011536808.1	221	Intron			XP_011535110.1
XM_011536809.2	221	UTR 5			XP_011535111.1
XM_011536810.2	221	Intron			XP_011535112.1
XM_017021351.1	221	Intron			XP_016876840.1
XM_017021352.1	221	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	221	Missense Mutation	GAA,GGA	E21G	NP_689658.2
XM_011536475.1	221	Missense Mutation	GAA,GGA	E21G	XP_011534777.1

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