Gene
SRCAP
Snf2 related CREBBP activator protein
- HGNC 16974↗(opens in a new tab)
- Ensembl gene ENSG00000080603↗(opens in a new tab)
- NCBI Gene 10847↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p11.2
- Coordinates
- Chromosome 16: 30,699,171–30,741,409 (GRCh38)
- Exons
- 34 exons across 42.2 kb
- Protein
- 3,230 amino acids
- Also known as
- KIAA0309, SWR1, DOMO1
- MANE Select transcript
- ENST00000262518.9NM_006662.3
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads SRCAP yet. The test sequences your whole genome, so your data includes it all the same.
How SRCAP 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 11.7 kb of the gene's 42.2 kb; 9,693 of those bases code for the protein.
How a genome test reads SRCAP
40
positions in SRCAP 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 42.2 kb of SRCAP, introns included, not only the 11.7 kb of exons.
Traits linked to SRCAP
The Human Phenotype Ontology lists these as features of the rare conditions SRCAP can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Bulbous nose
- Low hanging columella
- Prominent metopic ridge
- Prominent nasal bridge
- Prominent nose
- Underdeveloped tissue around nostril
- Short philtrum
- Triangular face
Show 26 more traits
- Wide mouth
- Decreased size of tooth
- Dental cavities
- Short neck
- Thin red part of the upper lip
- Big calvaria
- Broad nasal tip
- Decreased size of maxilla
- Delayed loss of baby teeth
- Failure of development of more than six teeth
- Long nose
- Narrow nasal bridge
- Abnormally small head
- Big lower jaw
- Downturned corners of mouth
- Drooping lower lip
- Eye folds
- Fullness around the eyes
- Long eyelashes
- Long face
- Long philtrum
- Low hairline at back of neck
- Narrow eyelid opening
- Prominent forehead
- Receding chin
- Wide nasal bridge
Abnormality of the musculoskeletal system
- Delayed bone maturation
- Double-Jointed
- Low muscle tone
- Shield chest
- 11 pairs of ribs
- Abnormal formation of the hip
- Enlarged joints
- Kyphoscoliosis
Show 1 more trait
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.
- 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.). SRCAP gene: Snf2 related CREBBP activator protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/srcap
Dante Labs. SRCAP gene: Snf2 related CREBBP activator protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/srcap
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