Product Details

SNP ID

rs191020588

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:140786961 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGGGGGCAAACCGGAGCTGCAAG[A/G]TACAGTTGAGCTGCTGATCACCGTC

Phenotype

MIM: 606307 MIM: 606308

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PCDHA1 PubMed Links

Gene Details

Gene

PCDHA1

Gene Name

protocadherin alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018900.3	826	Missense Mutation	GAT,GGT	D224G	NP_061723.1
NM_031410.2	826	Missense Mutation	GAT,GGT	D224G	NP_113598.1
NM_031411.2	826	Missense Mutation	GAT,GGT	D224G	NP_113599.1

Gene

PCDHA2

Gene Name

protocadherin alpha 2

There are no transcripts associated with this gene.

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