Variant: rs1287464120 

    present in Gene: CDKN2B-AS1;CDKN2A
    present in Chromosome: 9
    Position on Chromosome: 21994235
    Alleles of this Variant: C/A;T

rs1287464120 in CDKN2B-AS1;CDKN2A gene and Hereditary Melanoma PMID 11571653 2001 A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

PMID 17440112 2007 Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.

PMID 15856016 2005 A mutation hotspot at the p14ARF splice site.