Product Details
- SNP ID
-
rs2288462
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:17351690 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- TGAGGAAGTGGCTGGGAGGCCAGGA[A/G]GCTGGAGGAGGGGAGGTGCTGGGGC
- Phenotype
-
MIM: 608536
MIM: 607647
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
GTPBP3
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs182163886] 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
- GTPBP3
- Gene Name
- GTP binding protein 3 (mitochondrial)
There are no transcripts associated with this gene.
- Gene
- PLVAP
- Gene Name
- plasmalemma vesicle associated protein
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_031310.2 |
2062 |
UTR 3 |
|
|
NP_112600.1 |
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