Product Details

SNP ID

rs189483426

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141135708 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGCTTCTATATGAAAAACTAGAC[C/T]GGGAGGTGATGTGCGGGGCGACAGA

Phenotype

MIM: 606331

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PCDHB5 PubMed Links

Gene Details

Gene

PCDHB5

Gene Name

protocadherin beta 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015669.4	503	Missense Mutation	CGG,TGG	R92W	NP_056484.2

View Full Product Details