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SNP ID: rs200566433
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:141356720 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCACCTCTGTCCTCCTATGTCTCCA[A/T]CAACTCCAATACAGGGATCCTATAT
Phenotype: MIM: 606288 MIM: 606289 MIM: 606290 MIM: 606291 MIM: 606292 MIM: 606299 MIM: 606300
Polymorphism: A/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	1696	Intron			NP_061735.1
NM_031993.1	1696	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	1696	Intron			NP_061738.1
NM_032009.2	1696	Intron			NP_114398.1

Gene: PCDHGA3
Gene Name: protocadherin gamma subfamily A, 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018916.3	1696	Intron			NP_061739.2
NM_032011.1	1696	Intron			NP_114400.1

Gene: PCDHGA4
Gene Name: protocadherin gamma subfamily A, 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018917.3	1696	Missense Mutation	AAC,ATC	N538I	NP_061740.2
NM_032053.2	1696	Missense Mutation	AAC,ATC	N538I	NP_114442.2

Gene: PCDHGA5
Gene Name: protocadherin gamma subfamily A, 5

There are no transcripts associated with this gene.

Gene: PCDHGB1
Gene Name: protocadherin gamma subfamily B, 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018922.2	1696	Intron			NP_061745.1
NM_032095.1	1696	Intron			NP_115266.1

Gene: PCDHGB2
Gene Name: protocadherin gamma subfamily B, 2

There are no transcripts associated with this gene.

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