Product Details

SNP ID
rs143515784
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57630807 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATAAATTCTTCTGGAAGAAACTG[C/T]CTTAATTGAGGTGGACTCTAGAAAA
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 1496 Silent Mutation AGA,AGG R475R NP_689891.1
XM_006713019.3 1496 Silent Mutation AGA,AGG R474R XP_006713082.1
XM_006713020.2 1496 Silent Mutation AGA,AGG R409R XP_006713083.1
XM_017005864.1 1496 Silent Mutation AGA,AGG R408R 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 1496 Intron NP_001309105.1
NM_001322177.1 1496 Intron NP_001309106.1
NM_177966.6 1496 Intron NP_808881.3

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