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Gene : AMPH Homo sapiens

Name  ? amphiphysin Cytological Location  7p14.1
Brief Description  amphiphysin
Description  This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
  • synonyms:
  • AMPH,
  • HGNC:471,
  • OTTHUMG00000023725,
  • amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen),
  • uc003tgu.4,
  • AMPH1,
  • NM_001635,
  • amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)
  • identifiers:
  • 273,
  • ENSG00000078053,
  • AMPH

Genome feature

Region: gene ? Length: 247804  
Location: 7:38383694-38631497 reverse strand Cyto location: 7p14.1

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0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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3740 SNPs

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results