Product Details

SNP ID
rs191703506
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73959450 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGAGTTCCTTGGTTTGGTCCAC[A/G]TCCCATGAACATGCAGCAGAGCTAG
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_182476.2 903 Silent Mutation ACA,ACG T273T NP_872282.1
NM_182480.2 903 Silent Mutation ACA,ACG T248T NP_872286.2
XM_006720156.1 903 Silent Mutation ACA,ACG T164T XP_006720219.1
XM_011536807.1 903 Intron XP_011535109.1
XM_011536808.1 903 Silent Mutation ACA,ACG T198T XP_011535110.1
XM_011536809.2 903 Silent Mutation ACA,ACG T198T XP_011535111.1
XM_011536810.2 903 Silent Mutation ACA,ACG T273T XP_011535112.1
XM_017021351.1 903 Silent Mutation ACA,ACG T93T XP_016876840.1
XM_017021352.1 903 Silent Mutation ACA,ACG T71T 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_001249.3 903 Intron NP_001240.1
NM_001321984.1 903 Intron NP_001308913.1
NM_001321985.1 903 Intron NP_001308914.1
NM_001321986.1 903 Intron NP_001308915.1
NM_001321987.1 903 Intron NP_001308916.1
NM_001321988.1 903 Intron NP_001308917.1
XM_005268224.3 903 Intron XP_005268281.1
XM_006720325.3 903 UTR 3 XP_006720388.1
XM_006720326.2 903 Intron XP_006720389.1
XM_017021813.1 903 Intron XP_016877302.1
XM_017021814.1 903 UTR 3 XP_016877303.1
XM_017021815.1 903 UTR 3 XP_016877304.1
XM_017021816.1 903 Intron XP_016877305.1
XM_017021817.1 903 UTR 3 XP_016877306.1
Gene
FAM161B
Gene Name
family with sequence similarity 161 member B
There are no transcripts associated with this gene.

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