Product Details

SNP ID

rs143044525

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141095578 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGACAGCCCCGTTGGATCCCAGG[C/T]TGCCATCGTCTCTGCCAGGGATTTA

Phenotype

MIM: 606328 MIM: 606329

Polymorphism

C/T, 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	972	Missense Mutation	GCT,GTT	A263V	NP_061759.1

Gene

PCDHB3

Gene Name

protocadherin beta 3

There are no transcripts associated with this gene.

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