Annovar And Gene Isoforms
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Entering edit mode
10.9 years ago
Abdel ▴ 150

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 ?

annovar snp • 1.6k views
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1
Entering edit mode
10.9 years ago

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.

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