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CCACTGGTCTCAAATGCCATCCTGA[A/C]CAGGAGCATATGATTTATCCTCTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609804 MIM: 604203 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CFAP52 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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CFAP52 - cilia and flagella associated protein 52 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080556.1 | 174 | Intron | NP_001074025.1 | |||
NM_145054.4 | 174 | Missense Mutation | GAA,GAC | E,D 35 | NP_659491.4 | |
XM_017024227.1 | 174 | Intron | XP_016879716.1 |
STX8 - syntaxin 8 | ||||||
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There are no transcripts associated with this gene. |