Patent ID: 8765927

Claim:
A method of identifying variants of SEQ ID NO:11 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 DNA using a polynucleotide consisting of a 5′-noncoding, 3′-non coding or intron fragment of SEQ ID NO: 11 or its complementary sequence, wherein said 5′-noncoding, 3′-noncoding or intron fragment or its complementary sequence is at least 20 nucleotides in length and wherein said 5′-noncoding region consists of nucleotides 1-10235 of SEQ ID NO:11, and said 3′-noncoding region consists of nucleotides 30341-37113 of SEQ ID NO: 11.