Product Details

SNP ID

rs201879768

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:229325350 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGAGTGAGCTCGCTGCCTTTGA[C/G]CAACCAGTTTCCTTTTTTCCACCTG

Phenotype

MIM: 616762

Polymorphism

C/G, Transversion 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	776	Missense Mutation	GCT,GGT	A233G	NP_660300.3

View Full Product Details