Product Details

SNP ID
rs141633156
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:35919809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACCGAGAGGGCAGCCATGAACACC[C/T]AAAAGGGTTCCCTCACCATAAACGT
Phenotype
Polymorphism
C/T, 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 69 Nonsense Mutation CAA,TAA Q4* NP_001291477.1
NM_152632.3 69 Nonsense Mutation CAA,TAA Q4* NP_689845.2
XM_017029452.1 69 Nonsense Mutation CAA,TAA Q4* XP_016884941.1
XM_017029453.1 69 Nonsense Mutation CAA,TAA Q4* XP_016884942.1

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