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SNP ID: rs141036392
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:140801795 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTTGGACTCGTGTTGAAAAAAAAT[G/T]TAAATCGAGAGGACACTCCTAAGCA
Phenotype: MIM: 606307 MIM: 606308 MIM: 606309 MIM: 606310
Polymorphism: G/T, 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	598	Intron			NP_061723.1
NM_031410.2	598	Intron			NP_113598.1
NM_031411.2	598	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	598	Intron			NP_061728.1
NM_031495.1	598	Intron			NP_113683.1
NM_031496.1	598	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	598	Missense Mutation	GTA,TTA	V200L	NP_061729.1
NM_031497.1	598	Missense Mutation	GTA,TTA	V200L	NP_113685.1

Gene: PCDHA4
Gene Name: protocadherin alpha 4

There are no transcripts associated with this gene.

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