Product Details

SNP ID

rs140114227

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:229326857 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTTTCTTTTATTTTACTCGATG[A/G]TCTTTGGGGACTTTTGACCGCTTTC

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	595	Missense Mutation	CCA,TCA	P173S	NP_660300.3

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