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CTTACATTTGACCCTTTCTTGCCAG[A/G]CCTCTTGAGGCCTCTGCCATGAGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 614259 MIM: 614443 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CFAP57 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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CFAP57 - cilia and flagella associated protein 57 | ||||||
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There are no transcripts associated with this gene. |
EBNA1BP2 - EBNA1 binding protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159936.1 | 1164 | Missense Mutation | CCT,TCT | P,S 339 | NP_001153408.1 | |
NM_006824.2 | 1164 | Missense Mutation | CCT,TCT | P,S 284 | NP_006815.2 |
FAM183A - family with sequence similarity 183 member A | ||||||
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There are no transcripts associated with this gene. |
MIR6733 - microRNA 6733 | ||||||
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There are no transcripts associated with this gene. |