rs2854128
From SNPedia
| G2706A, defines MT-Haplogroup H |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | G2706A+, probably MT-Haplogroup H. |
| (G;G) | 0.1 | G2706A-, not MT-Haplogroup H |
| Make rs2854128(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 2706 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2854128 |
| dbSNP (classic) | rs2854128 |
| ClinGen | rs2854128 |
| ebi | rs2854128 |
| HLI | rs2854128 |
| Exac | rs2854128 |
| Gnomad | rs2854128 |
| Varsome | rs2854128 |
| LitVar | rs2854128 |
| Map | rs2854128 |
| PheGenI | rs2854128 |
| Biobank | rs2854128 |
| 1000 genomes | rs2854128 |
| hgdp | rs2854128 |
| ensembl | rs2854128 |
| geneview | rs2854128 |
| scholar | rs2854128 |
| rs2854128 | |
| pharmgkb | rs2854128 |
| gwascentral | rs2854128 |
| openSNP | rs2854128 |
| 23andMe | rs2854128 |
| SNPshot | rs2854128 |
| SNPdbe | rs2854128 |
| MSV3d | rs2854128 |
| GWAS Ctlg | rs2854128 |
| GMAF | 0.1656 |
| Max Magnitude | 1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| Haplogroup SNP | |
|---|---|
| Alt. Name(s) | G2706A |
| Source(s) | [PMID 17099056] [PMID 15382008  ][PMID 15254257] Palanichamy 2004 |
| Tree | PhyloTree build 7 |
| Clade Haplogroup |
No Clade Haplogroup |
| Ancestral Haplogroup |
Haplogroup HV (mtDNA) |
| Derived Haplogroup |
Haplogroup H (mtDNA) |
| Ancestral Allele | G |
| Derived Allele | A |
More commonly known as G2706A, this is one of the two ancestral mitochondrial mutations that define Mitochondrial Haplogroup H. However, this is also a mutation which changes both the RNA of the mitochondrial ribosome (potentially changing its shape and function) and the protective protein humanin which is encoded from the RNA of the ribosome itself.
