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SNP ID: rs200011304
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:140828196 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGAGCGGCCAGCTCCACTACTCCGT[A/C]CCCGAGGAGGCCAAACACGGCACCT
Phenotype: MIM: 606307 MIM: 606308 MIM: 606309 MIM: 606310 MIM: 606311 MIM: 606312 MIM: 606313
Polymorphism: A/C, Transversion 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	275	Intron			NP_061723.1
NM_031410.2	275	Intron			NP_113598.1
NM_031411.2	275	Intron			NP_113599.1

Gene: PCDHA2
Gene Name: protocadherin alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018905.2	275	Intron			NP_061728.1
NM_031495.1	275	Intron			NP_113683.1
NM_031496.1	275	Intron			NP_113684.1

Gene: PCDHA3
Gene Name: protocadherin alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018906.2	275	Intron			NP_061729.1
NM_031497.1	275	Intron			NP_113685.1

Gene: PCDHA4
Gene Name: protocadherin alpha 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018907.3	275	Intron			NP_061730.1
NM_031500.2	275	Intron			NP_113688.1

Gene: PCDHA5
Gene Name: protocadherin alpha 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018908.2	275	Intron			NP_061731.1
NM_031501.1	275	Intron			NP_113689.1

Gene: PCDHA6
Gene Name: protocadherin alpha 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018909.3	275	Silent Mutation	GTA,GTC	V35V	NP_061732.1
NM_031848.2	275	Silent Mutation	GTA,GTC	V35V	NP_114036.1
NM_031849.2	275	Silent Mutation	GTA,GTC	V35V	NP_114037.1

Gene: PCDHA7
Gene Name: protocadherin alpha 7

There are no transcripts associated with this gene.

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