Product Details

SNP ID
rs138207028
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73961192 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCAGTGGAGTGATGCTGACCACA[C/T]GGACTTCATCGACACAGCTGGTGCC
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_182476.2 995 Missense Mutation ACG,ATG T304M NP_872282.1
NM_182480.2 995 Missense Mutation ACG,ATG T279M NP_872286.2
XM_006720156.1 995 Missense Mutation ACG,ATG T195M XP_006720219.1
XM_011536807.1 995 Missense Mutation ACG,ATG T268M XP_011535109.1
XM_011536808.1 995 Missense Mutation ACG,ATG T229M XP_011535110.1
XM_011536809.2 995 Missense Mutation ACG,ATG T229M XP_011535111.1
XM_011536810.2 995 Intron XP_011535112.1
XM_017021351.1 995 Missense Mutation ACG,ATG T124M XP_016876840.1
XM_017021352.1 995 Missense Mutation ACG,ATG T102M 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_001249.3 995 Intron NP_001240.1
NM_001321984.1 995 UTR 3 NP_001308913.1
NM_001321985.1 995 Intron NP_001308914.1
NM_001321986.1 995 Intron NP_001308915.1
NM_001321987.1 995 Intron NP_001308916.1
NM_001321988.1 995 Intron NP_001308917.1
XM_005268224.3 995 Intron XP_005268281.1
XM_006720325.3 995 Intron XP_006720388.1
XM_006720326.2 995 Intron XP_006720389.1
XM_017021813.1 995 Intron XP_016877302.1
XM_017021814.1 995 Intron XP_016877303.1
XM_017021815.1 995 Intron XP_016877304.1
XM_017021816.1 995 Intron XP_016877305.1
XM_017021817.1 995 Intron XP_016877306.1

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