Product Details

SNP ID

rs146641474

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141331265 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGATGGGCCTCAACATCCAGAGA[C/T]GGTGCTGCAGAGTCCCTTAGACAGA

Phenotype

MIM: 606288 MIM: 606289

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PCDHGA1 PubMed Links

Gene Details

Gene

PCDHGA1

Gene Name

protocadherin gamma subfamily A, 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018912.2	581	Missense Mutation	ACG,ATG	T194M	NP_061735.1
NM_031993.1	581	Missense Mutation	ACG,ATG	T194M	NP_114382.1

Gene

PCDHGA2

Gene Name

protocadherin gamma subfamily A, 2

There are no transcripts associated with this gene.

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