PMID: 26567969

Upper Palaeolithic genomes reveal deep roots of modern Eurasians.

Nature communications
ER Jones, G Gonzalez-Fortes, S Connell, V Siska, A Eriksson, R Martiniano, RL McLaughlin, M Gallego Llorente, LM Cassidy, C Gamba, T Meshveliani, O Bar-Yosef, W Müller, A Belfer-Cohen, Z Matskevich, N Jakeli, TFG Higham, M Currat, D Lordkipanidze, M Hofreiter, A Manica, R Pinhasi, DG Bradley
2015-11-16

32 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28187772-A-T OCA2 c.1951+9158T>A - IntronicSNV - 18/23
15-48468019-T-C MYEF2 c.161+2255A>G - IntronicSNV - 1/16
15-48433494-A-G MYEF2 c.*1611T>C - 3-UTRSNV 17/17 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
15-48445387-A-C MYEF2 c.1087+602T>G - IntronicSNV - 10/16
9-12709305-C-A TYRP1 c.*123C>A - 3-UTRSNV 8/8 -
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
15-48445387-A-G MYEF2 c.1087+602T>C - IntronicSNV - 10/16
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
16-89986117-C-A MC1R c.451C>A p.Arg151Ser Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
20-33218090-G-A PIGU c.529+4329C>T - IntronicSNV - 6/11
15-48420744-A-G SLC24A5 c.302-5711A>G - IntronicSNV - 2/8
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
15-48418645-A-G SLC24A5 c.301+4412A>G - IntronicSNV - 2/8
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
14-92801203-G-A SLC24A4 c.241+8881G>A - IntronicSNV - 2/16
15-48415068-A-G SLC24A5 c.301+835A>G - IntronicSNV - 2/8
15-48416360-G-A SLC24A5 c.301+2127G>A - IntronicSNV - 2/8
15-48461146-T-C MYEF2 c.162-110A>G - IntronicSNV - 1/16
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
15-48438917-A-G MYEF2 c.1639+2312T>C - IntronicSNV - 16/16
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
15-48414969-C-T SLC24A5 c.301+736C>T - IntronicSNV - 2/8
15-48416360-G-T SLC24A5 c.301+2127G>T - IntronicSNV - 2/8
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
2-136616754-C-T MCM6 c.1362+117G>A - IntronicSNV - 9/16