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ATGTATTCATATGCAGCAGCCTGAG[A/C]ATTTACTCGGGTTTCAGTGCCCTCC
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604850 MIM: 611654 | |||||||||||||||||||||||||||||
Literature Links: |
COPS5 PubMed Links | |||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
COPS5 - COP9 signalosome subunit 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006837.2 | 656 | Missense Mutation | GCT,TCT | A,S 109 | NP_006828.2 |
CSPP1 - centrosome and spindle pole associated protein 1 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |