Product Details

SNP ID
rs200680991
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49003823 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAAAATCCCCAGAGCCACATAGA[C/T]GGGGGTGGTAGTGCGAACCATAGCA
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_001206709.1 743 Missense Mutation ATC,GTC I222V NP_001193638.1
NM_001206710.1 743 Missense Mutation ATC,GTC I181V NP_001193639.1
NM_002733.4 743 Missense Mutation ATC,GTC I213V NP_002724.1
XM_005269019.4 743 Missense Mutation ATC,GTC I250V XP_005269076.1
XM_005269020.2 743 Missense Mutation ATC,GTC I129V XP_005269077.1
XM_006719499.2 743 Missense Mutation ATC,GTC I181V XP_006719562.1
XM_011538562.2 743 Missense Mutation ATC,GTC I181V XP_011536864.1
XM_017019622.1 743 Missense Mutation ATC,GTC I129V XP_016875111.1
XM_017019623.1 743 Missense Mutation ATC,GTC I129V XP_016875112.1

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