PMID: 27468418

Importance of nonsynonymous OCA2 variants in human eye color prediction.

Molecular genetics & genomic medicine
JD Andersen, C Pietroni, P Johansen, MM Andersen, V Pereira, C Børsting, N Morling
2016-07

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
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 -
15-28200303-C-A OCA2 c.1842+1G>T - IntronicSNV - 17/23
15-28418286-C-G HERC2 c.10057+1255G>C - IntronicSNV - 65/92
15-28116316-G-A OCA2 c.2228C>T p.Pro743Leu Missense 21/24 -
15-28197037-T-C OCA2 c.1844A>G p.His615Arg Missense 18/24 -
15-28418286-C-T HERC2 c.10057+1255G>A - IntronicSNV - 65/92
15-28200303-C-T OCA2 c.1842+1G>A - IntronicSNV - 17/23
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
15-28228553-C-T OCA2 c.1441G>A p.Ala481Thr Missense 14/24 -
15-28386626-C-T HERC2 c.11967G>A p.Gln3989Gln Synonymous 78/93 -
15-28230247-C-T OCA2 c.1327G>A p.Val443Ile Missense 13/24 -
15-28472485-C-T HERC2 c.5464+879G>A - IntronicSNV - 35/92
15-28260053-G-A OCA2 c.913C>T p.Arg305Trp Missense 9/24 -