Have questions? Visit https://www.reddit.com/r/SNPedia

rs2853498

From SNPedia

A12308G, mitochondrial haplogroup U
Orientationplus
Stabilizedplus
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)
ReferenceGRCh38.p2 38.2/144
ChromosomeMT
Position12308
GeneMT-TL2
is asnp
is mentioned by
dbSNPrs2853498
ebirs2853498
HLIrs2853498
Exacrs2853498
Varsomers2853498
Maprs2853498
PheGenIrs2853498
hapmaprs2853498
1000 genomesrs2853498
hgdprs2853498
ensemblrs2853498
gopubmedrs2853498
geneviewrs2853498
scholarrs2853498
googlers2853498
pharmgkbrs2853498
gwascentralrs2853498
openSNPrs2853498
23andMers2853498
23andMe allrs2853498
SNP Nexus

SNPshotrs2853498
SNPdbers2853498
MSV3drs2853498
GWAS Ctlgrs2853498
GMAF0.09907
Max Magnitude1.5
? (A;A) (A;G) (G;G) 28

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.