Product Details

SNP ID
rs144500518
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:20369979 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTCCCTCATTTCCTTAGAGAGGT[A/T]CAAGGTCGCCTGGAGACCTTACCTG
Phenotype
MIM: 123805
Polymorphism
A/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_000921.4 735 Missense Mutation TAC,TTC Y232F NP_000912.3
NM_001244683.1 735 Intron NP_001231612.1
XM_017019420.1 735 Missense Mutation TAC,TTC Y232F XP_016874909.1
XM_017019421.1 735 Intron XP_016874910.1

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