Product Details

SNP ID
rs200606048
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49003186 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTGATGATGGTCTCCAGAGTCTC[A/T]TGCAGGTAGCACTTGAGAACACCCT
Phenotype
MIM: 610588 MIM: 602742
Polymorphism
A/T, Transversion 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_001206709.1 952 Silent Mutation CAA,CAT Q291H NP_001193638.1
NM_001206710.1 952 Silent Mutation CAA,CAT Q250H NP_001193639.1
NM_002733.4 952 Silent Mutation CAA,CAT Q282H NP_002724.1
XM_005269019.4 952 Silent Mutation CAA,CAT Q319H XP_005269076.1
XM_005269020.2 952 Silent Mutation CAA,CAT Q198H XP_005269077.1
XM_006719499.2 952 Silent Mutation CAA,CAT Q250H XP_006719562.1
XM_011538562.2 952 Silent Mutation CAA,CAT Q250H XP_011536864.1
XM_017019622.1 952 Silent Mutation CAA,CAT Q198H XP_016875111.1
XM_017019623.1 952 Silent Mutation CAA,CAT Q198H XP_016875112.1

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