Product Details

SNP ID
rs148160119
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:208239879 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATCTTACCAATGGGATTGGTGGA[C/T]GTCTCCTGTCCTTTCTGGTACATGC
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 1338 Intron NP_001269315.1
NM_001282387.1 1338 Silent Mutation ACA,ACG T325T NP_001269316.1
NM_005896.3 1338 Intron NP_005887.2

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