Product Details

SNP ID
rs148171467
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:50244423 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTAGGACAATCATTTTTTGTAATT[C/G]AATGTTTACAACTTAGTATGTATGC
Phenotype
MIM: 609584
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
L2HGDH PubMed Links

Gene Details

Gene
L2HGDH
Gene Name
L-2-hydroxyglutarate dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024884.2 3186 UTR 3 NP_079160.1
XM_005268075.4 3186 UTR 3 XP_005268132.1
XM_011537166.2 3186 Intron XP_011535468.1
XM_011537167.2 3186 Intron XP_011535469.1
XM_011537168.2 3186 Intron XP_011535470.1
XM_017021655.1 3186 Intron XP_016877144.1
XM_017021656.1 3186 Intron XP_016877145.1
XM_017021657.1 3186 UTR 3 XP_016877146.1
XM_017021658.1 3186 Intron XP_016877147.1

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