Product Details

SNP ID
rs185019496
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:141135679 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTGCAGCTTGATATAAAGACCG[A/G]CAATTTGCTTCTATATGAAAAACTA
Phenotype
MIM: 606331
Polymorphism
A/G, 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_015669.4 474 Missense Mutation GAC,GGC D82G NP_056484.2

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