Mutation Details for c.4137-139G>A
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cDNA Name
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c.4137-139G>A
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Exon or Intron
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intron 25
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Legacy Exon or Intron
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intron 22
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4269-139G/A
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Other Details
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Sequence variation 4269-139 G->A in intron 22 is a frequent polymorphism located in the primer binding site of Consortium primer 23i-5. We also find a sequence correction, GC instead of CG at 4269-145/144 within this site. These changes can result in an allele-specific suppression of PCR amplification if primer 23i-5 is used under stringent conditions.
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Contributors
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Dörk T,
Schmidtke J,
Stuhrmann M
1996-09-23
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Institute
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Institut fur Humangenetik, Medizinische Hochschule Hannover,
Hannover, Germany.
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Submitted Phenotype Details
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Reference
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Dörk et al. (NL#69)
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