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Gene : LOC108281170 Homo sapiens

Name  ? NF1 intron 2 Alu-mediated recombination region Cytological Location  17q11.2
description  This region is found within an intron of the neurofibromin 1 (NF1) gene on the q arm of chromosome 17, and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the NF1 intron 1 Alu-mediated region recombination region, resulting in genomic rearrangements that can include a deletion of the intervening sequence. Intronic numbering is based on NG_009018.1, which uses NM_001042492.2 as a reference standard. Partial loss of the NF1 coding region can be a cause of neurofibromatosis, a tumor disorder characterized by cafe au lait spots, neurofibromas, and Lisch nodules [provided by RefSeq, Jul 2016]
  • identifiers:
  • 108281170,
  • LOC108281170

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 17q11.2

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0 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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0 Pathways

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1 Cross References

3 Data Sets

0 Homologues

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0 Rna Seq Results