Product Details

SNP ID
rs199915613
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:208239895 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGGTGGACGTCTCCTGTCCTTTC[C/T]GGTACATGCGGTAGTGACGGGTTAC
Phenotype
MIM: 147700
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IDH1 PubMed Links

Gene Details

Gene
IDH1
Gene Name
isocitrate dehydrogenase (NADP(+)) 1, cytosolic
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282386.1 1322 Intron NP_001269315.1
NM_001282387.1 1322 Missense Mutation CAG,CGG Q320R NP_001269316.1
NM_005896.3 1322 Intron NP_005887.2

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