PMID: 23486544

Genetics of eye colours in different rural populations on the Silk Road.

European journal of human genetics : EJHG
S Ulivi, M Mezzavilla, P Gasparini
2013-11

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28374012-T-A HERC2 c.12802+1297A>T - IntronicSNV - 83/92
15-28374012-T-C HERC2 c.12802+1297A>G - IntronicSNV - 83/92
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
2-80605790-A-G CTNNA2 c.1057-14546A>G - IntronicSNV - 7/17
15-28359258-G-A HERC2 c.13914-434C>T - IntronicSNV - 90/92
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
15-28386626-C-T HERC2 c.11967G>A p.Gln3989Gln Synonymous 78/93 -
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92