Product Details

SNP ID
rs142687109
Assay Type
Functionally tested
NCBI dbSNP Submissions
9
Location
Chr.1:229326789 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTTGTGAGTCTTCTGGCTTCCTGT[A/G]TCGGTCTGTTTTTCTCCCCAGCCAT
Phenotype
MIM: 616762
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCSAP PubMed Links

Gene Details

Gene
CCSAP
Gene Name
centriole, cilia and spindle associated protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145257.4 663 Silent Mutation GAC,GAT D195D NP_660300.3

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