Product Details

SNP ID
rs143893523
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73961211 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCACACGGACTTCATCGACACAGC[C/T]GGTGCCATGCTGCAGTATGCTGTCA
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 1014 Silent Mutation GCC,GCT A310A NP_872282.1
NM_182480.2 1014 Silent Mutation GCC,GCT A285A NP_872286.2
XM_006720156.1 1014 Silent Mutation GCC,GCT A201A XP_006720219.1
XM_011536807.1 1014 Silent Mutation GCC,GCT A274A XP_011535109.1
XM_011536808.1 1014 Silent Mutation GCC,GCT A235A XP_011535110.1
XM_011536809.2 1014 Silent Mutation GCC,GCT A235A XP_011535111.1
XM_011536810.2 1014 Intron XP_011535112.1
XM_017021351.1 1014 Silent Mutation GCC,GCT A130A XP_016876840.1
XM_017021352.1 1014 Silent Mutation GCC,GCT A108A 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 1014 Intron NP_001240.1
NM_001321984.1 1014 UTR 3 NP_001308913.1
NM_001321985.1 1014 Intron NP_001308914.1
NM_001321986.1 1014 Intron NP_001308915.1
NM_001321987.1 1014 Intron NP_001308916.1
NM_001321988.1 1014 Intron NP_001308917.1
XM_005268224.3 1014 Intron XP_005268281.1
XM_006720325.3 1014 Intron XP_006720388.1
XM_006720326.2 1014 Intron XP_006720389.1
XM_017021813.1 1014 Intron XP_016877302.1
XM_017021814.1 1014 Intron XP_016877303.1
XM_017021815.1 1014 Intron XP_016877304.1
XM_017021816.1 1014 Intron XP_016877305.1
XM_017021817.1 1014 Intron XP_016877306.1

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