Product Details

SNP ID
rs144286715
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:185502452 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACACACGAAGCACTCAGGGTGCC[A/G]GTACTTATCCCGCGCCTTCACCACA
Phenotype
MIM: 605889
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PDLIM3 PubMed Links

Gene Details

Gene
PDLIM3
Gene Name
PDZ and LIM domain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114107.4 917 Missense Mutation CGG,TGG R265W NP_001107579.1
NM_001257962.1 917 Missense Mutation CGG,TGG R225W NP_001244891.1
NM_001257963.1 917 Missense Mutation CGG,TGG R146W NP_001244892.1
NM_014476.5 917 Missense Mutation CGG,TGG R313W NP_055291.2

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