Product Details

SNP ID

rs148063858

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141135996 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTGCTACGCATAATCGCGGAGAT[C/G]GCAGAAAATACCCAGAGCTGGTGCT

Phenotype

MIM: 606331

Polymorphism

C/G, 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	791	Missense Mutation	CGC,GGC	R188G	NP_056484.2

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