Product Details

SNP ID
rs116726495
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:104123033 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAGCTGTGGTTTTACCTAGCACT[C/T]CTCAGGCCTCTGCGAATCCATCATC
Phenotype
MIM: 616527
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CFAP43 PubMed Links

Gene Details

Gene
CFAP43
Gene Name
cilia and flagella associated protein 43
There are no transcripts associated with this gene.

Gene
SFR1
Gene Name
SWI5 dependent homologous recombination repair protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002759.1 133 Missense Mutation CCT,TCT P28S NP_001002759.1
NM_145247.4 133 Missense Mutation CCT,TCT P15S NP_660290.3
XM_005269521.3 133 Missense Mutation CCT,TCT P90S XP_005269578.1
XM_017015672.1 133 Missense Mutation CCT,TCT P15S XP_016871161.1

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