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TCCAGCTTGGCCCATCACCTCAGTA[C/T]GGCAGCCTTCAATGGGAAGGACTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614647 MIM: 603162 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COQ6 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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COQ6 - coenzyme Q6, monooxygenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_182476.2 | 1268 | Missense Mutation | ACG,ATG | T,M 395 | NP_872282.1 | |
NM_182480.2 | 1268 | Missense Mutation | ACG,ATG | T,M 370 | NP_872286.2 | |
XM_006720156.1 | 1268 | Missense Mutation | ACG,ATG | T,M 286 | XP_006720219.1 | |
XM_011536807.1 | 1268 | Missense Mutation | ACG,ATG | T,M 359 | XP_011535109.1 | |
XM_011536808.1 | 1268 | Missense Mutation | ACG,ATG | T,M 320 | XP_011535110.1 | |
XM_011536809.2 | 1268 | Missense Mutation | ACG,ATG | T,M 320 | XP_011535111.1 | |
XM_011536810.2 | 1268 | Intron | XP_011535112.1 | |||
XM_017021351.1 | 1268 | Missense Mutation | ACG,ATG | T,M 215 | XP_016876840.1 | |
XM_017021352.1 | 1268 | Missense Mutation | ACG,ATG | T,M 193 | XP_016876841.1 |
ENTPD5 - ectonucleoside triphosphate diphosphohydrolase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001249.3 | 1268 | Intron | NP_001240.1 | |||
NM_001321984.1 | 1268 | Missense Mutation | ATA,GTA | I,V 403 | NP_001308913.1 | |
NM_001321985.1 | 1268 | Intron | NP_001308914.1 | |||
NM_001321986.1 | 1268 | Intron | NP_001308915.1 | |||
NM_001321987.1 | 1268 | Intron | NP_001308916.1 | |||
NM_001321988.1 | 1268 | Intron | NP_001308917.1 | |||
XM_005268224.3 | 1268 | Intron | XP_005268281.1 | |||
XM_006720325.3 | 1268 | Intron | XP_006720388.1 | |||
XM_006720326.2 | 1268 | Intron | XP_006720389.1 | |||
XM_017021813.1 | 1268 | Intron | XP_016877302.1 | |||
XM_017021814.1 | 1268 | Intron | XP_016877303.1 | |||
XM_017021815.1 | 1268 | Intron | XP_016877304.1 | |||
XM_017021816.1 | 1268 | Intron | XP_016877305.1 | |||
XM_017021817.1 | 1268 | Intron | XP_016877306.1 |