Product Details

SNP ID
rs145204368
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57628332 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAGGTTTCACAGGTAAGTGCTCT[C/G]GATCAGCCTGCAACTACATAAGGAA
Phenotype
MIM: 616519
Polymorphism
C/G, Transversion 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 1780 Missense Mutation CCA,CGA P570R NP_689891.1
XM_006713019.3 1780 Missense Mutation CCA,CGA P569R XP_006713082.1
XM_006713020.2 1780 Missense Mutation CCA,CGA P504R XP_006713083.1
XM_017005864.1 1780 Missense Mutation CCA,CGA P503R 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 1780 Intron NP_001309105.1
NM_001322177.1 1780 Intron NP_001309106.1
NM_177966.6 1780 Intron NP_808881.3

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