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rs2854128

From SNPedia

G2706A, defines MT-Haplogroup H
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 G2706A+, probably MT-Haplogroup H.
(G;G) 0.1 G2706A-, not MT-Haplogroup H
Make rs2854128(A;G)
ReferenceGRCh37 37.1/132
ChromosomeMT
Position2706
GeneMT-RNR2
is asnp
is mentioned by
dbSNPrs2854128
ebirs2854128
HLIrs2854128
Exacrs2854128
Varsomers2854128
Maprs2854128
PheGenIrs2854128
hapmaprs2854128
1000 genomesrs2854128
hgdprs2854128
ensemblrs2854128
gopubmedrs2854128
geneviewrs2854128
scholarrs2854128
googlers2854128
pharmgkbrs2854128
gwascentralrs2854128
openSNPrs2854128
23andMers2854128
23andMe allrs2854128
SNP Nexus

SNPshotrs2854128
SNPdbers2854128
MSV3drs2854128
GWAS Ctlgrs2854128
GMAF0.1656
Max Magnitude1
? (A;A) (A;G) (G;G) 28
Haplogroup SNP
Alt. Name(s) G2706A
Source(s) [PMID 17099056]
[PMID 15382008OA-icon.png]
[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.