Product Details
- SNP ID
-
rs200875314
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:241776969 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCAGAGGCCAAGATGATGTCCATGC[A/T]GGGCGGCTTGCAGAGGTAAGGGGGG
- Phenotype
-
MIM: 609186
MIM: 608237
- Polymorphism
- A/T, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
D2HGDH
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs12469459] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- D2HGDH
- Gene Name
- D-2-hydroxyglutarate dehydrogenase
There are no transcripts associated with this gene.
- Gene
- GAL3ST2
- Gene Name
- galactose-3-O-sulfotransferase 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_022134.2 |
145 |
Missense Mutation |
CAG,CTG |
Q5L |
NP_071417.2 |
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