PMID: 18252222

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

American journal of human genetics
RA Sturm, DL Duffy, ZZ Zhao, FP Leite, MS Stark, NK Hayward, NG Martin, GW Montgomery
2008-02

13 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28260053-G-A OCA2 c.913C>T p.Arg305Trp Missense 9/24 -
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
15-28365431-A-G HERC2 c.13272+1061T>C - IntronicSNV - 86/92
15-28365431-A-C HERC2 c.13272+1061T>G - IntronicSNV - 86/92
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
15-28338713-A-C OCA2 c.-22+5657T>G - intron_variant - 1/23
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92