Gene
SNUPN
snurportin 1
- HGNC 14245(opens in a new tab)
- Ensembl gene ENSG00000169371(opens in a new tab)
- NCBI Gene 10073(opens in a new tab)
Summary
- Cytogenetic location
- 15q24.2
- Coordinates
- Chromosome 15: 75,598,086–75,625,725 (GRCh38)
- Exons
- 9 exons across 27.6 kb
- Protein
- 360 amino acids
- Also known as
- SNURPORTIN-1, Snurportin1
- Previous symbols
- RNUT1
- MANE Select transcript
- ENST00000308588.10NM_005701.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Congenital Muscular Dystrophies
- Congenital muscular dystrophy
A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).
- ClinGen rates the link strong
- 4 GenCC submitters rate it definitive or strong
Limb-Girdle Muscular Dystrophy
Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.
- 3 GenCC submitters rate it definitive or strong
How SNUPN is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.4 kb of the gene's 27.6 kb; 1,083 of those bases code for the protein.
How a genome test reads SNUPN
3
positions in SNUPN where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 27.6 kb of SNUPN, introns included, not only the 1.4 kb of exons.
Traits linked to SNUPN
The Human Phenotype Ontology lists these as features of the rare conditions SNUPN can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SNUPN gene: snurportin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/snupn
Dante Labs. SNUPN gene: snurportin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/snupn
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