Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATAAAAATAAAAAGTATAATTACCC[A/G]AATCACAGAATTCAAGTCTTCAATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_025145.5 | 4165 | Missense Mutation | CGG,TGG | R,W 1477 | NP_079421.5 | |
XM_005270171.2 | 4165 | Missense Mutation | CGG,TGG | R,W 1478 | XP_005270228.1 | |
XM_005270172.3 | 4165 | Missense Mutation | CGG,TGG | R,W 1449 | XP_005270229.1 | |
XM_011540196.2 | 4165 | Missense Mutation | CGG,TGG | R,W 1516 | XP_011538498.1 | |
XM_011540197.2 | 4165 | Missense Mutation | CGG,TGG | R,W 1487 | XP_011538499.1 | |
XM_011540198.2 | 4165 | Missense Mutation | CGG,TGG | R,W 1477 | XP_011538500.1 | |
XM_011540199.2 | 4165 | Missense Mutation | CGG,TGG | R,W 1477 | XP_011538501.1 | |
XM_011540200.2 | 4165 | Missense Mutation | CGG,TGG | R,W 1350 | XP_011538502.1 | |
XM_011540201.2 | 4165 | Missense Mutation | CGG,TGG | R,W 1516 | XP_011538503.1 | |
XM_011540202.2 | 4165 | Missense Mutation | CGG,TGG | R,W 1259 | XP_011538504.1 | |
XM_011540203.2 | 4165 | Missense Mutation | CGG,TGG | R,W 777 | XP_011538505.1 | |
XM_017016681.1 | 4165 | Missense Mutation | CGG,TGG | R,W 1515 | XP_016872170.1 | |
XM_017016682.1 | 4165 | Missense Mutation | CGG,TGG | R,W 1400 | XP_016872171.1 | |
XM_017016683.1 | 4165 | Missense Mutation | CGG,TGG | R,W 978 | XP_016872172.1 | |
XM_017016684.1 | 4165 | Intron | XP_016872173.1 |