Product Details

SNP ID
rs201500817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:196554663 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCACCACAACTAAAAATATTAC[A/C]ACACGAAGCCACAGAGATAGAATGG
Phenotype
MIM: 615110
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
WDR53 PubMed Links

Gene Details

Gene
WDR53
Gene Name
WD repeat domain 53
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_182627.1 1096 Missense Mutation GGT,TGT G209C NP_872433.1

View Full Product Details