Product Details

SNP ID
rs147757228
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:104124051 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAGATTAAACGCTGAAAAAGCCA[A/C]ATTGGTGAAGCAGGTTCAGGAGAAA
Phenotype
MIM: 616527
Polymorphism
A/C, 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_001002759.1 524 Missense Mutation AAA,ACA K158T NP_001002759.1
NM_145247.4 524 Missense Mutation AAA,ACA K145T NP_660290.3
XM_005269521.3 524 Missense Mutation AAA,ACA K220T XP_005269578.1
XM_017015672.1 524 Missense Mutation AAA,ACA K145T XP_016871161.1

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