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    NF1P2 neurofibromin 1 pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 440225, updated on 17-Sep-2024

    Summary

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    Official Symbol
    NF1P2provided by HGNC
    Official Full Name
    neurofibromin 1 pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:38664
    See related
    AllianceGenome:HGNC:38664
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NF1HHS
    Annotation information
    Note: The name of this locus was changed from NF1P1 to NF1P2 in collaboration with HGNC. [13 Sep 2011]
    Expression
    Restricted expression toward testis (RPKM 1.2) See more
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    Genomic context

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    See NF1P2 in Genome Data Viewer
    Location:
    15q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (21927657..21940278, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (22133181..22145802, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 63 pseudogene Neighboring gene zinc finger protein 519 pseudogene 3 Neighboring gene microRNA 5701-3 Neighboring gene olfactory receptor family 11 subfamily J member 7 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases. Gasparini P, et al. Mol Cell Probes, 1993 Oct. PMID 8264676
    2. NF1-related locus on chromosome 15. Legius E, et al. Genomics, 1992 Aug. PMID 1505963
    3. Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. Purandare SM, et al. Genomics, 1995 Dec 10. PMID 8825634

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    RNA

    1. NR_028506.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC183089

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      21927657..21940278 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160017.1 Reference GRCh38.p14 PATCHES

      Range
      2961011..2973612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005158.5: Suppressed sequence

      Description
      NG_005158.5: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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