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GGGGCGGGATGGCTGCGGAAGAAGA[A/C]GACGAGGTGGAGTGGGTAGTGGAGA
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CFAP36 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)
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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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CFAP36 - cilia and flagella associated protein 36 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282761.1 | 216 | Missense Mutation | GAA,GAC | E,D 6 | NP_001269690.1 | |
NM_080667.6 | 216 | Missense Mutation | GAA,GAC | E,D 6 | NP_542398.3 | |
XM_011532499.1 | 216 | Intron | XP_011530801.1 | |||
XM_017003254.1 | 216 | UTR 5 | XP_016858743.1 | |||
XM_017003255.1 | 216 | Intron | XP_016858744.1 |