Variant: rs397514533 

    present in Gene: ALOX12B;MIR4314
    present in Chromosome: 17
    Position on Chromosome: 8086169
    Alleles of this Variant: T/A

rs397514533 in ALOX12B;MIR4314 gene and ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 PMID 19890349 2010 Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

PMID 16116617 2005 Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

PMID 15629692 2005 Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.

PMID 19131948 2009 Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

PMID 11773004 2002 Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.