Product Details

SNP ID
rs140226913
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:141331441 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCACAATACCATATAAATGTCCCC[A/G]AAAACGTGCCGCTGGGTACTCAGCT
Phenotype
MIM: 606288 MIM: 606289
Polymorphism
A/G, Transition 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_018912.2 757 Missense Mutation AAA,GAA K253E NP_061735.1
NM_031993.1 757 Missense Mutation AAA,GAA K253E NP_114382.1
Gene
PCDHGA2
Gene Name
protocadherin gamma subfamily A, 2
There are no transcripts associated with this gene.

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