Product Details

SNP ID
rs201727373
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49003805 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGAGACTCGATGCTGTACAAAAA[A/T]CCCCAGAGCCACATAGACGGGGGTG
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_001206709.1 761 Missense Mutation ATT,TTT I228F NP_001193638.1
NM_001206710.1 761 Missense Mutation ATT,TTT I187F NP_001193639.1
NM_002733.4 761 Missense Mutation ATT,TTT I219F NP_002724.1
XM_005269019.4 761 Missense Mutation ATT,TTT I256F XP_005269076.1
XM_005269020.2 761 Missense Mutation ATT,TTT I135F XP_005269077.1
XM_006719499.2 761 Missense Mutation ATT,TTT I187F XP_006719562.1
XM_011538562.2 761 Missense Mutation ATT,TTT I187F XP_011536864.1
XM_017019622.1 761 Missense Mutation ATT,TTT I135F XP_016875111.1
XM_017019623.1 761 Missense Mutation ATT,TTT I135F XP_016875112.1

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