Product Details

SNP ID
rs200631553
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49003159 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTCCCTACCTCTGCTTCCACTAG[C/T]CTGTTGATGATGGTCTCCAGAGTCT
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_001206709.1 979 Silent Mutation AGA,AGG R300R NP_001193638.1
NM_001206710.1 979 Silent Mutation AGA,AGG R259R NP_001193639.1
NM_002733.4 979 Silent Mutation AGA,AGG R291R NP_002724.1
XM_005269019.4 979 Silent Mutation AGA,AGG R328R XP_005269076.1
XM_005269020.2 979 Silent Mutation AGA,AGG R207R XP_005269077.1
XM_006719499.2 979 Silent Mutation AGA,AGG R259R XP_006719562.1
XM_011538562.2 979 Silent Mutation AGA,AGG R259R XP_011536864.1
XM_017019622.1 979 Silent Mutation AGA,AGG R207R XP_016875111.1
XM_017019623.1 979 Silent Mutation AGA,AGG R207R XP_016875112.1

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