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AGGAATTAAAGTTTGAAGCCAGAAT[C/G]AATGGCCACAATGCCTGATGTTAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616359 MIM: 601562 MIM: 616207 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COQ5 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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COQ5 - coenzyme Q5, methyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032314.3 | 984 | Missense Mutation | CAT,GAT | H,D 322 | NP_115690.3 | |
XM_006719639.2 | 984 | Missense Mutation | CAT,GAT | H,D 241 | XP_006719702.1 |
DYNLL1 - dynein light chain LC8-type 1 | ||||||
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There are no transcripts associated with this gene. |
NRAV - negative regulator of antiviral response (non-protein coding) | ||||||
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There are no transcripts associated with this gene. |