Product Details

SNP ID

rs199505634

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:50238637 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCCTTCTCTTCACAGTTAAGTT[A/C]TTTAAGACTTTCATTTATGTGTTTC

Phenotype

MIM: 614759

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CFAP53 PubMed Links

Gene Details

Gene

CFAP53

Gene Name

cilia and flagella associated protein 53

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145020.4	1400	Nonsense Mutation	GAA,TAA	E428*	NP_659457.2

View Full Product Details