Product Details

SNP ID
rs190657
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:9647677 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAGATGCATTTCCATCCAGTTACC[A/C]CAGCAATGGGAGAGGGCTGCAGTAG
Phenotype
MIM: 609804
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
CFAP52 PubMed Links

Gene Details

Gene
CFAP52
Gene Name
cilia and flagella associated protein 52
There are no transcripts associated with this gene.

Gene
USP43
Gene Name
ubiquitin specific peptidase 43
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267576.1 Intron NP_001254505.1
NM_153210.4 Intron NP_694942.3
XM_011523639.2 Intron XP_011521941.1
XM_011523640.1 Intron XP_011521942.1
XM_011523641.1 Intron XP_011521943.1
XM_011523642.2 Intron XP_011521944.1
XM_017024159.1 Intron XP_016879648.1
XM_017024160.1 Intron XP_016879649.1
XM_017024161.1 Intron XP_016879650.1
XM_017024162.1 Intron XP_016879651.1

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