Product Details

SNP ID

rs200473303

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141095448 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTAACCCTCACAGCGCTAGATGGC[A/G]GGAGTCCACCCAGGTCCGGCACGGC

Phenotype

MIM: 606328 MIM: 606329

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PCDHB2 PubMed Links

Gene Details

Gene

PCDHB2

Gene Name

protocadherin beta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018936.3	842	Missense Mutation	AGG,GGG	R220G	NP_061759.1

Gene

PCDHB3

Gene Name

protocadherin beta 3

There are no transcripts associated with this gene.

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