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ATTTCGCAGTTCAGGAATGACTTTA[C/G]ACAATATCAGTCGGGCAGCTGTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601683 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COQ7 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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COQ7 - coenzyme Q7, hydroxylase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190983.1 | 143 | Missense Mutation | CAC,GAC | H,D 4 | NP_001177912.1 | |
NM_016138.4 | 143 | Missense Mutation | CAC,GAC | H,D 42 | NP_057222.2 |
LOC102723385 - uncharacterized LOC102723385 | ||||||
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There are no transcripts associated with this gene. |
TMC7 - transmembrane channel like 7 | ||||||
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There are no transcripts associated with this gene. |