Product Details

SNP ID
rs200485979
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:104123717 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAATGTTTTGTGCTCTTTATAGCCT[A/G]TGAGTGCAACACTTAGAGAAAGATT
Phenotype
MIM: 616527
Polymorphism
A/G, 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_001002759.1 190 Missense Mutation ATG,GTG M47V NP_001002759.1
NM_145247.4 190 Missense Mutation ATG,GTG M34V NP_660290.3
XM_005269521.3 190 Missense Mutation ATG,GTG M109V XP_005269578.1
XM_017015672.1 190 Missense Mutation ATG,GTG M34V XP_016871161.1

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