Product Details

SNP ID
rs189135254
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:140807302 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCACTACTCGGTCTCCGAGGAG[A/G]CCAAACACGGCACCTTCGTGGGCCG
Phenotype
MIM: 606307 MIM: 606308 MIM: 606309 MIM: 606310
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_018900.3 229 Intron NP_061723.1
NM_031410.2 229 Intron NP_113598.1
NM_031411.2 229 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_018905.2 229 Intron NP_061728.1
NM_031495.1 229 Intron NP_113683.1
NM_031496.1 229 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_018906.2 229 Intron NP_061729.1
NM_031497.1 229 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_018907.3 229 Missense Mutation ACC,GCC T39A NP_061730.1
NM_031500.2 229 Missense Mutation ACC,GCC T39A NP_113688.1

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