Product Details

SNP ID
rs141457914
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:20369862 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACTCTCACTCCCCGCCGCGGGGG[C/T]GGTGCTCAGCTGCTTGGCCGCCGCG
Phenotype
MIM: 123805
Polymorphism
C/T, Transition 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_000921.4 618 Missense Mutation GCG,GTG A193V NP_000912.3
NM_001244683.1 618 Intron NP_001231612.1
XM_017019420.1 618 Missense Mutation GCG,GTG A193V XP_016874909.1
XM_017019421.1 618 Intron XP_016874910.1

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