Product Details

SNP ID
rs138448528
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:20369724 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTGTGTGCCTTCTTCTGGATGG[G/T]CTTGTACCTCCTGCGCGCCGGGGTG
Phenotype
MIM: 123805
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PDE3A PubMed Links

Gene Details

Gene
PDE3A
Gene Name
phosphodiesterase 3A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000921.4 480 Missense Mutation GGC,GTC G147V NP_000912.3
NM_001244683.1 480 Intron NP_001231612.1
XM_017019420.1 480 Missense Mutation GGC,GTC G147V XP_016874909.1
XM_017019421.1 480 Intron XP_016874910.1

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