Product Details

SNP ID
rs11575948
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:141344493 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AACGGTTCCTGGAACCCGATTTCCA[A/C]TTAAAACTGCTTTTGACCCAGATGT
Phenotype
MIM: 606288 MIM: 606289 MIM: 606290 MIM: 606299
Polymorphism
A/C, 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_018912.2 460 Intron NP_061735.1
NM_031993.1 460 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_018915.3 460 Intron NP_061738.1
NM_032009.2 460 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_018916.3 460 Missense Mutation ATT,CTT I154L NP_061739.2
NM_032011.1 460 Missense Mutation ATT,CTT I154L NP_114400.1
Gene
PCDHGB1
Gene Name
protocadherin gamma subfamily B, 1
There are no transcripts associated with this gene.

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