Product Details

SNP ID

rs144112908

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141135760 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGTATATTGCATTTCCAGCTCT[A/T]ACTAGAAAATCCAGTGCAGTTTTTT

Phenotype

MIM: 606331

Polymorphism

A/T, Transversion 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	555	Nonsense Mutation	TAA,TTA	*109L	NP_056484.2

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