Sample Details for Hap5016420

ID

Hg ID: Hap5016420, GenBank ID: FJ748710.1

Haplogroup

Phylotree BLD 16: Z4a1a, Phylotree BLD 17: , YFull: Z4a1a*

Publication

Published in: Ji F et al., 2012 | Ji, F., Sharpley, M.S., Derbeneva, O., Alves, L.S., Qian, P., Wang, Y., Chalkia, D., Lvova, M., Xu, J., Yao, W. and Simon, M. (2012). Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. Proceedings of the National Academy of Sciences, 109(19), 7391-7396.

The distinction between mild pathogenic mtDNA mutations and population polymorphisms can be ambiguous because both are homoplasmic, alter conserved functions, and correlate with disease. One possible explanation for this ambiguity is that the same variant may have different consequences in different contexts.

Sample source link: http://www.ncbi.nlm.nih.gov/nuccore/FJ748710.1

Origin:

Publication Notes: YN5

Results Profile

RSRS Haplotype:

146, 195, 247, 249d, 489, 769, 825T, 1018, 2758, 2885, 3594, 4104, 4312, 4715, 5288, 5492, 5894, 6752, 7146, 7196, 7256, 7521, 8468, 8584, 8655, 8908, 9090, 10400, 10664, 10688, 10810, 11914, 13105, 13276, 13506, 13650, 14783, 15043, 15301, 15475, 15487T, 15784, 16129, 16185, 16187, 16189, 16230, 16260, 16278, 16298, 16302, 16311, 16519

rCRS Haplotype:

Coming soon…

FASTA Profile:


Phylotree Build 17 Analysis

Missing Variants: Z4a1a:7196A, 10915, 15944d

Additional Variants: Z4a1a:5288, 7196, 8908, 16189, 16519


Last Updated: 2016/06/29 10:51:00 PM

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