Product Details

SNP ID
rs56058113
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57628856 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACAAGGTCTACTGTTTCTACTTC[C/T]GTGTGTTTCTGGATCCAGAGAAGTA
Phenotype
MIM: 616519
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DENND6A PubMed Links

Gene Details

Gene
DENND6A
Gene Name
DENN domain containing 6A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152678.2 1721 Silent Mutation ACA,ACG T550T NP_689891.1
XM_006713019.3 1721 Silent Mutation ACA,ACG T549T XP_006713082.1
XM_006713020.2 1721 Silent Mutation ACA,ACG T484T XP_006713083.1
XM_017005864.1 1721 Silent Mutation ACA,ACG T483T XP_016861353.1
Gene
PDE12
Gene Name
phosphodiesterase 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322176.1 1721 Intron NP_001309105.1
NM_001322177.1 1721 Intron NP_001309106.1
NM_177966.6 1721 Intron NP_808881.3

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