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GGGAGCCCCGGGGAGGAACGCCCGC[C/T]CGGACCCCAGCCCCAGCTCCAGCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609804 | ||||||||||||||||||||||||||||||||||||||
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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There are no transcripts associated with this gene. |
USP43 - ubiquitin specific peptidase 43 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267576.1 | 162 | Missense Mutation | CCC,CTC | P,L 81 | NP_001254505.1 | |
NM_153210.4 | 162 | Missense Mutation | CCC,CTC | P,L 81 | NP_694942.3 | |
XM_011523639.2 | 162 | Missense Mutation | CCC,CTC | P,L 81 | XP_011521941.1 | |
XM_011523640.1 | 162 | UTR 5 | XP_011521942.1 | |||
XM_011523641.1 | 162 | Intron | XP_011521943.1 | |||
XM_011523642.2 | 162 | Intron | XP_011521944.1 | |||
XM_017024159.1 | 162 | Intron | XP_016879648.1 | |||
XM_017024160.1 | 162 | Intron | XP_016879649.1 | |||
XM_017024161.1 | 162 | Intron | XP_016879650.1 | |||
XM_017024162.1 | 162 | Intron | XP_016879651.1 |