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