Product Details

SNP ID
rs201797578
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:35919816 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGCAGCCATGAACACCCAAAAGG[A/G]TTCCCTCACCATAAACGTCCACAGA
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CFAP47 PubMed Links

Gene Details

Gene
CFAP47
Gene Name
cilia and flagella associated protein 47
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304548.1 76 Missense Mutation GAT,GGT D6G NP_001291477.1
NM_152632.3 76 Missense Mutation GAT,GGT D6G NP_689845.2
XM_017029452.1 76 Missense Mutation GAT,GGT D6G XP_016884941.1
XM_017029453.1 76 Missense Mutation GAT,GGT D6G XP_016884942.1

View Full Product Details