Product Details

SNP ID
rs146287703
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57557215 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCTGGGCCTGGCACCTGCACTT[C/T]TGACCACCGGCATCTCTACACGAAG
Phenotype
MIM: 616519
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PDE12 PubMed Links

Gene Details

Gene
PDE12
Gene Name
phosphodiesterase 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322176.1 969 Missense Mutation TCT,TTT S279F NP_001309105.1
NM_001322177.1 969 Missense Mutation TCT,TTT S279F NP_001309106.1
NM_177966.6 969 Missense Mutation TCT,TTT S279F NP_808881.3

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