Product Details

SNP ID
rs112847444
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57628292 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATAATGGCATCTATGTGTGTCCG[C/T]AACTTTTCCATAGTGTCAGGTTTCA
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 1820 Silent Mutation TTA,TTG L583L NP_689891.1
XM_006713019.3 1820 Silent Mutation TTA,TTG L582L XP_006713082.1
XM_006713020.2 1820 Silent Mutation TTA,TTG L517L XP_006713083.1
XM_017005864.1 1820 Silent Mutation TTA,TTG L516L 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 1820 Intron NP_001309105.1
NM_001322177.1 1820 Intron NP_001309106.1
NM_177966.6 1820 Intron NP_808881.3

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