PMID: 22065085

A global view of the OCA2-HERC2 region and pigmentation.

Human genetics
MP Donnelly, P Paschou, E Grigorenko, D Gurwitz, C Barta, RB Lu, OV Zhukova, JJ Kim, M Siniscalco, M New, H Li, SL Kajuna, VG Manolopoulos, WC Speed, AJ Pakstis, JR Kidd, KK Kidd
2012-05

27 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
15-28364059-A-G HERC2 c.13273-1759T>C - IntronicSNV - 86/92
15-28338713-A-C OCA2 c.-22+5657T>G - intron_variant - 1/23
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
15-28266235-T-C OCA2 c.646+1412A>G - IntronicSNV - 6/23
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28298033-G-A OCA2 c.228-20724C>T - IntronicSNV - 2/23
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
15-28427986-T-A HERC2 c.8826-328A>T - IntronicSNV - 56/92
15-28250156-T-C OCA2 c.1044+9766A>G - IntronicSNV - 9/23
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28131633-A-T OCA2 c.2080-14565T>A - IntronicSNV - 19/23
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-28226541-C-T OCA2 c.1503+1950G>A - IntronicSNV - 14/23
15-28208017-G-A OCA2 c.1636+3819C>T - IntronicSNV - 15/23
15-28235773-C-T OCA2 c.1065G>A p.Ala355Ala Synonymous 10/24 -
15-28288748-A-G OCA2 c.228-11439T>C - IntronicSNV - 2/23
15-28298033-G-C OCA2 c.228-20724C>G - IntronicSNV - 2/23
15-28364059-A-C HERC2 c.13273-1759T>G - IntronicSNV - 86/92
15-28239301-A-G OCA2 c.1045-3508T>C - IntronicSNV - 9/23
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
15-28197037-T-C OCA2 c.1844A>G p.His615Arg Missense 18/24 -
15-28250156-T-G OCA2 c.1044+9766A>C - IntronicSNV - 9/23
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
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