Product Details

SNP ID

rs202162563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:52844928 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTTACACTCAGCGGTGCACGCCC[A/G]CAGTCCTAATACGAAAGGGAAAAGG

Phenotype

MIM: 603580

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PCDH8 PubMed Links

Gene Details

Gene

PCDH8

Gene Name

protocadherin 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002590.3	3049	Missense Mutation	CGG,TGG	R949W	NP_002581.2
NM_032949.2	3049	Missense Mutation	CGG,TGG	R852W	NP_116567.1

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