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CTCAGCCTCGTGCTGCTCCACCCGC[C/T]GGTTGGCATGTGCCAGCTCTGCCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CCDC102A 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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CCDC102A - coiled-coil domain containing 102A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033212.3 | 1544 | Missense Mutation | CAG,CGG | Q,R 444 | NP_149989.2 | |
XM_011523469.2 | 1544 | Missense Mutation | CAG,CGG | Q,R 444 | XP_011521771.1 |