Product Details

SNP ID
rs199843731
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49003819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTACAAAAATCCCCAGAGCCACA[C/T]AGACGGGGGTGGTAGTGCGAACCAT
Phenotype
MIM: 610588 MIM: 602742
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DDN PubMed Links

Gene Details

Gene
DDN
Gene Name
dendrin
There are no transcripts associated with this gene.

Gene
PRKAG1
Gene Name
protein kinase AMP-activated non-catalytic subunit gamma 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206709.1 747 Missense Mutation TAT,TGT Y223C NP_001193638.1
NM_001206710.1 747 Missense Mutation TAT,TGT Y182C NP_001193639.1
NM_002733.4 747 Missense Mutation TAT,TGT Y214C NP_002724.1
XM_005269019.4 747 Missense Mutation TAT,TGT Y251C XP_005269076.1
XM_005269020.2 747 Missense Mutation TAT,TGT Y130C XP_005269077.1
XM_006719499.2 747 Missense Mutation TAT,TGT Y182C XP_006719562.1
XM_011538562.2 747 Missense Mutation TAT,TGT Y182C XP_011536864.1
XM_017019622.1 747 Missense Mutation TAT,TGT Y130C XP_016875111.1
XM_017019623.1 747 Missense Mutation TAT,TGT Y130C XP_016875112.1

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