Product Details

SNP ID
rs148978960
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:104124114 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGAGGCTAAAACTAGTCAAAATGT[A/T]TAGATCAAAGGTGAGAAGAATTTCA
Phenotype
MIM: 616527
Polymorphism
A/T, Transversion 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_001002759.1 587 Missense Mutation TAT,TTT Y179F NP_001002759.1
NM_145247.4 587 Missense Mutation TAT,TTT Y166F NP_660290.3
XM_005269521.3 587 Missense Mutation TAT,TTT Y241F XP_005269578.1
XM_017015672.1 587 Missense Mutation TAT,TTT Y166F XP_016871161.1

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