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GENATLAS PHENOTYPE
last update : 09/04/08
Symbol HECD
Location 15q13.1
Name skin, hair and eye pigmentation variations
Other name(s) human eye color determination
Corresponding gene HERC2 , OCA2
Other symbol(s) SHEP1, BEY2, HCL3, EYCL3
Main clinical features
  • data suggest a common founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans
    • Genetic determination
    Function/system disorder
    Type susceptibility factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other     two SNPs in a 166kb region of the HERC2 gene perfectly associated with the blue and brown eye colors : rs12913832 and rs1129038
    other     tight linkage of the major TGT haplotype within intron 1 of OCA2 with blue eye color and lighter hair and skin tones
    other     the SNP that showed the strongest association was 1667394 located 200 kb downstream of OCA2, within intron 4 of the HERC2 gene
    Remark(s)