PMID: 29129317

The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.

American journal of human genetics
R Laso-Jadart, C Harmant, H Quach, N Zidane, C Tyler-Smith, Q Mehdi, Q Ayub, L Quintana-Murci, E Patin
2017-12-07

25 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28235773-C-T OCA2 c.1065G>A p.Ala355Ala Synonymous 10/24 -
11-5248232-T-C HBB c.20A>G p.Glu7Gly Missense 1/3 -
17-7592168-C-G WRAP53 c.202C>G p.Arg68Gly Missense 1/10 -
17-7592168-C-T WRAP53 c.202C>T p.Arg68Trp Missense 1/10 -
11-5248232-T-G HBB c.20A>C p.Glu7Ala Missense 1/3 -
15-43737188-G-C TP53BP1 c.3040+1397C>G - IntronicSNV - 14/27
2-136608746-C-G MCM6 c.1917+226G>C - IntronicSNV - 13/16
1-207782889-A-G CR1 c.4801A>G p.Arg1601Gly Missense 29/39 -
15-43737188-G-A TP53BP1 c.3040+1397C>T - IntronicSNV - 14/27
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
1-159174683-T-C ACKR1 c.1-67T>C - 5-UTRSNV 1/2 -
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
11-68855363-G-A TPCN2 c.2201G>A p.Gly734Glu Missense 25/25 -
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
2-136608746-C-T MCM6 c.1917+226G>A - IntronicSNV - 13/16
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
11-5248232-T-A HBB c.20A>T p.Glu7Val Missense 1/3 -
2-136608646-G-A MCM6 c.1917+326C>T - IntronicSNV - 13/16
20-32856998-A-G ASIP c.*25A>G - 3-UTRSNV 3/3 -
2-136608646-G-C MCM6 c.1917+326C>G - IntronicSNV - 13/16