Product Details

SNP ID
rs183284952
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57630716 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAAAACAGGGAAAAAAGACTAACC[A/G]GTAAAGTCCAATCCAATCGCCTTTT
Phenotype
MIM: 616519
Polymorphism
A/G, 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 1587 Missense Mutation CGG,TGG R506W NP_689891.1
XM_006713019.3 1587 Missense Mutation CGG,TGG R505W XP_006713082.1
XM_006713020.2 1587 Missense Mutation CGG,TGG R440W XP_006713083.1
XM_017005864.1 1587 Missense Mutation CGG,TGG R439W 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 1587 Intron NP_001309105.1
NM_001322177.1 1587 Intron NP_001309106.1
NM_177966.6 1587 Intron NP_808881.3

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