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SNP ID: rs149936360
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:140795377 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCGCCAATATTTCCAATGACAGTAA[A/G]GACTATCCGGTTTCCCGAATCAAGG
Phenotype: MIM: 606307 MIM: 606308 MIM: 606309
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	519	Intron			NP_061723.1
NM_031410.2	519	Intron			NP_113598.1
NM_031411.2	519	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	519	Missense Mutation	AAG,AGG	K138R	NP_061728.1
NM_031495.1	519	Missense Mutation	AAG,AGG	K138R	NP_113683.1
NM_031496.1	519	Missense Mutation	AAG,AGG	K138R	NP_113684.1

Gene: PCDHA3
Gene Name: protocadherin alpha 3

There are no transcripts associated with this gene.

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