Product Details

SNP ID

rs146183192

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:52845540 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCTTTGCCGCTGAACTTCTCTGC[G/T]TCTCTGCCAGAAATGGTGTTGAAGG

Phenotype

MIM: 603580

Polymorphism

G/T, Transversion 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	2928	Missense Mutation	GAA,GAC	E908D	NP_002581.2
NM_032949.2	2928	Missense Mutation	GAA,GAC	E811D	NP_116567.1

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