rs2853498
From SNPedia
| A12308G, mitochondrial haplogroup U |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0.1 | 12308-, not MT-Haplogroup U or K. |
| (G;G) | 1.5 | 12308+, MT-Haplogroup U or K. |
| Make rs2853498(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 12308 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2853498 |
| dbSNP (classic) | rs2853498 |
| ClinGen | rs2853498 |
| ebi | rs2853498 |
| HLI | rs2853498 |
| Exac | rs2853498 |
| Gnomad | rs2853498 |
| Varsome | rs2853498 |
| LitVar | rs2853498 |
| Map | rs2853498 |
| PheGenI | rs2853498 |
| Biobank | rs2853498 |
| 1000 genomes | rs2853498 |
| hgdp | rs2853498 |
| ensembl | rs2853498 |
| geneview | rs2853498 |
| scholar | rs2853498 |
| rs2853498 | |
| pharmgkb | rs2853498 |
| gwascentral | rs2853498 |
| openSNP | rs2853498 |
| 23andMe | rs2853498 |
| SNPshot | rs2853498 |
| SNPdbe | rs2853498 |
| MSV3d | rs2853498 |
| GWAS Ctlg | rs2853498 |
| GMAF | 0.09907 |
| Max Magnitude | 1.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
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Commonly known as A12308G or 12308, this is one of the three defining mitochondrial DNA mutations of Haplogroup U. G means Haplogroup U, A means not Haplogroup U. Medically, this is part of the mitochondrial tRNA gene MT-L2, responsible for building mitochondrial proteins containing the amino acid Leucine. This only affects the 13 proteins encoded by mitochondrial DNA, not the thousands of other mitochondrial proteins encoded by the normal DNA in the nucleus.
