Product Details

SNP ID
rs3180945
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73961230 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAGCTGGTGCCATGCTGCAGTAT[C/G]CTGTCAGCCTTCTGAAGCCCACTAA
Phenotype
MIM: 614647 MIM: 603162
Polymorphism
C/G, Transversion 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 1033 Missense Mutation CCT,GCT P317A NP_872282.1
NM_182480.2 1033 Missense Mutation CCT,GCT P292A NP_872286.2
XM_006720156.1 1033 Missense Mutation CCT,GCT P208A XP_006720219.1
XM_011536807.1 1033 Missense Mutation CCT,GCT P281A XP_011535109.1
XM_011536808.1 1033 Missense Mutation CCT,GCT P242A XP_011535110.1
XM_011536809.2 1033 Missense Mutation CCT,GCT P242A XP_011535111.1
XM_011536810.2 1033 Intron XP_011535112.1
XM_017021351.1 1033 Missense Mutation CCT,GCT P137A XP_016876840.1
XM_017021352.1 1033 Missense Mutation CCT,GCT P115A 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 1033 Intron NP_001240.1
NM_001321984.1 1033 UTR 3 NP_001308913.1
NM_001321985.1 1033 Intron NP_001308914.1
NM_001321986.1 1033 Intron NP_001308915.1
NM_001321987.1 1033 Intron NP_001308916.1
NM_001321988.1 1033 Intron NP_001308917.1
XM_005268224.3 1033 Intron XP_005268281.1
XM_006720325.3 1033 Intron XP_006720388.1
XM_006720326.2 1033 Intron XP_006720389.1
XM_017021813.1 1033 Intron XP_016877302.1
XM_017021814.1 1033 Intron XP_016877303.1
XM_017021815.1 1033 Intron XP_016877304.1
XM_017021816.1 1033 Intron XP_016877305.1
XM_017021817.1 1033 Intron XP_016877306.1

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