Product Details

SNP ID
rs146216672
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:142004960 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTAGCATCCATGACAGTGCCCACC[A/C]CCACCGTCAAGGCCATGGTGGGCAC
Phenotype
MIM: 601798
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
GNPDA1 PubMed Links

Gene Details

Gene
GNPDA1
Gene Name
glucosamine-6-phosphate deaminase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005471.4 633 Missense Mutation GGG,GTG G189V NP_005462.1
XM_005268348.1 633 Missense Mutation GGG,GTG G218V XP_005268405.1
XM_006714747.2 633 Missense Mutation GGG,GTG G189V XP_006714810.1
XM_011537537.1 633 Missense Mutation GGG,GTG G189V XP_011535839.1

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