Product Details

SNP ID

rs202048719

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141339512 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACCCAAATGACCACTTCTCCCTG[G/T]ACGTGCGAAGGGGAGCTGATGGGAA

Phenotype

MIM: 606288 MIM: 606289 MIM: 606290

Polymorphism

G/T, Transversion 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	753	Intron			NP_061735.1
NM_031993.1	753	Intron			NP_114382.1

Gene

PCDHGA2

Gene Name

protocadherin gamma subfamily A, 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018915.3	753	Missense Mutation	GAC,TAC	D181Y	NP_061738.1
NM_032009.2	753	Missense Mutation	GAC,TAC	D181Y	NP_114398.1

Gene

PCDHGA3

Gene Name

protocadherin gamma subfamily A, 3

There are no transcripts associated with this gene.

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