Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GACGGACAGACTGAGCCCGCGGCAG[C/G]TGGCCTTGGAGTAGAGACCGAGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615567 MIM: 606476 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COQ8B 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
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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COQ8B - coenzyme Q8B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142555.2 | 332 | Intron | NP_001136027.1 | |||
NM_024876.3 | 332 | Intron | NP_079152.3 |
ITPKC - inositol-trisphosphate 3-kinase C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_025194.2 | 332 | Missense Mutation | GCT,GGT | A,G 100 | NP_079470.1 | |
XM_017027324.1 | 332 | Intron | XP_016882813.1 |