Patent ID: 8765928

Claim:
A method of identifying variants of SEQ ID NO:12 or its complementary sequence comprising (a) isolating genomic polynucleotide from a subject and (b) determining the presence or absence of a variant in said genomic polynucleotide using an isolated polynucleotide at least 50 nucleotides in length identical to a region of SEQ ID NO:12, said region selected from the group consisting of a 5′-noncoding region, a 3′-non-coding region and a contiguous coding and non-coding nucleic acid sequence of SEQ ID NO:12 or reverse strand of said polynucleotide wherein said 5′-noncoding region consists of nucleotides 1-13981 of SEQ ID NO:12 and said 3′-noncoding region consists of nucleotides 14968-14972 of SEQ ID NO:12.