Annovar And Gene Isoforms

Question

[Abdel]

Hi all

when i give this snp (6 7526000 7526000 C A) to annovar (hg18) it is supposed to give me two isoforms(for DSP gene) in the results but it doesn't !

  nonsynonymous SNV       DSP:NM_004415:exon23:c.C4578A:p.N1526K

any explanation ?

Answer 1

[Larry_Parnell]

Possibly because that SNP is not found on or not mapped to one isoform (NM_001008844.1, NP_001008844.1) according to dbSNP. One rule of thumb, check the source data as the cause of an inconsistency in the results.