Product Details

SNP ID
rs142935352
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:14644570 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCCGCCTGCTGTTACCTGGGGGA[A/C]TTCTTGGTGTGGCAGTGGTGGTCTT
Phenotype
MIM: 602047 MIM: 602854
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PDE3B PubMed Links

Gene Details

Gene
PDE3B
Gene Name
phosphodiesterase 3B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000922.3 880 Missense Mutation GAA,GAC E165D NP_000913.2
XM_006718249.3 880 Missense Mutation GAA,GAC E165D XP_006718312.1
XM_017017911.1 880 Missense Mutation GAA,GAC E165D XP_016873400.1
XM_017017912.1 880 Missense Mutation GAA,GAC E165D XP_016873401.1
Gene
PSMA1
Gene Name
proteasome subunit alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143937.1 880 Intron NP_001137409.1
NM_002786.3 880 Intron NP_002777.1
NM_148976.2 880 Intron NP_683877.1

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