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CGGAGGCTAAAACTAGTCAAAATGT[A/T]TAGATCAAAGGTGAGAAGAATTTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616527 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CFAP43 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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CFAP43 - cilia and flagella associated protein 43 | ||||||
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There are no transcripts associated with this gene. |
SFR1 - SWI5 dependent homologous recombination repair protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002759.1 | 587 | Missense Mutation | TAT,TTT | Y,F 179 | NP_001002759.1 | |
NM_145247.4 | 587 | Missense Mutation | TAT,TTT | Y,F 166 | NP_660290.3 | |
XM_005269521.3 | 587 | Missense Mutation | TAT,TTT | Y,F 241 | XP_005269578.1 | |
XM_017015672.1 | 587 | Missense Mutation | TAT,TTT | Y,F 166 | XP_016871161.1 |