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SNORD48 small nucleolar RNA, C/D box 48 [ Homo sapiens (human) ]

Gene ID: 26801, updated on 8-Nov-2023

Summary

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Official Symbol
SNORD48provided by HGNC
Official Full Name
small nucleolar RNA, C/D box 48provided by HGNC
Primary source
HGNC:HGNC:10188
See related
Ensembl:ENSG00000201823 AllianceGenome:HGNC:10188
Gene type
snoRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
U48; RNU48
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Genomic context

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Location:
6p21.33
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31835263..31835326)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31688323..31688385)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31803040..31803103)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene origin of replication in promoter of HSPA1A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31783959-31784528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31784529-31785098 Neighboring gene heat shock protein family A (Hsp70) member 1A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:31789548-31790747 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31794443-31795254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31795278-31795907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31795908-31796536 Neighboring gene heat shock protein family A (Hsp70) member 1B Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31801830-31802528 Neighboring gene small nucleolar RNA host gene 32 Neighboring gene small nucleolar RNA, C/D box 52 Neighboring gene neuraminidase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Common genetic variation and the control of HIV-1 in humans. Fellay J, et al. PLoS Genet, 2009 Dec. PMID 20041166, Free PMC Article
  2. Site-specific ribose methylation of preribosomal RNA: a novel function for small nucleolar RNAs. Kiss-László Z, et al. Cell, 1996 Jun 28. PMID 8674114
  3. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. Lauc G, et al. PLoS Genet, 2013. PMID 23382691, Free PMC Article
  4. Eukaryotic snoRNAs: a paradigm for gene expression flexibility. Dieci G, et al. Genomics, 2009 Aug. PMID 19446021

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variation and the control of HIV-1 in humans.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Other Names

  • RNA, U48 small nuclear

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in RNA processing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  

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_002745.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    X96648
    Related
    ENST00000364953.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    31835263..31835326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    3167878..3167940
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    3312510..3312572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    3083042..3083104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    3091103..3091165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    31688323..31688385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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