Product Details
- SNP ID
-
rs146696295
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:241735300 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCGGGAGCCGCGGGTTCTTGGGGT[C/T]GGCCGGTTGGCCCCCTGGCCCGCAG
- Phenotype
-
MIM: 609186
MIM: 608525
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
D2HGDH
PubMed Links
Gene Details
- Gene
- D2HGDH
- Gene Name
- D-2-hydroxyglutarate dehydrogenase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001287249.1 |
236 |
Intron |
|
|
NP_001274178.1 |
NM_152783.4 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
NP_689996.4 |
XM_011511734.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510036.1 |
XM_011511735.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510037.1 |
XM_011511736.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510038.1 |
XM_011511737.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510039.1 |
XM_011511738.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510040.1 |
XM_011511739.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510041.1 |
XM_011511740.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510042.1 |
XM_011511741.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510043.1 |
XM_011511743.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510045.1 |
XM_011511744.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510046.1 |
XM_011511745.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510047.1 |
XM_011511746.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510048.1 |
XM_011511747.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510049.1 |
XM_011511749.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510051.1 |
XM_011511750.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510052.1 |
XM_011511751.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510053.1 |
XM_011511752.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510054.1 |
XM_011511753.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510055.1 |
XM_011511754.1 |
236 |
Intron |
|
|
XP_011510056.1 |
XM_011511756.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510058.1 |
XM_011511757.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510059.1 |
XM_011511758.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510060.1 |
XM_011511759.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510061.1 |
XM_011511760.2 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_011510062.1 |
XM_017004827.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_016860316.1 |
XM_017004828.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_016860317.1 |
XM_017004829.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_016860318.1 |
XM_017004830.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_016860319.1 |
XM_017004831.1 |
236 |
UTR 5 |
|
|
XP_016860320.1 |
XM_017004832.1 |
236 |
Missense Mutation |
CGG,TGG |
R26W |
XP_016860321.1 |
- Gene
- ING5
- Gene Name
- inhibitor of growth family member 5
There are no transcripts associated with this gene.
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