Product Details

SNP ID
rs145523697
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:20370089 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGTCCGCGGAGGCGGCTCCAAGG[A/G]AGCATTTGGGGTCCCAGCTGATTGC
Phenotype
MIM: 123805
Polymorphism
A/G, 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_000921.4 845 Missense Mutation AAG,GAG K269E NP_000912.3
NM_001244683.1 845 Intron NP_001231612.1
XM_017019420.1 845 Missense Mutation AAG,GAG K269E XP_016874909.1
XM_017019421.1 845 Intron XP_016874910.1

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