Product Details

SNP ID
rs139283481
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:78155271 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACAGGTGACCAGAGGTTTTACTG[G/T]TGGTGTGAGTATAATTATGTCTTTT
Phenotype
MIM: 601149
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
IDH3A PubMed Links

Gene Details

Gene
IDH3A
Gene Name
isocitrate dehydrogenase 3 (NAD(+)) alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005530.2 164 Missense Mutation GGT,GTT G29V NP_005521.1
XM_005254336.2 164 UTR 5 XP_005254393.1
XM_017022118.1 164 Intron XP_016877607.1
XM_017022119.1 164 UTR 5 XP_016877608.1
XM_017022120.1 164 Intron XP_016877609.1

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