Gene
SMARCD1
SWI/SNF related BAF chromatin remodeling complex subunit D1
- HGNC 11106↗(opens in a new tab)
- Ensembl gene ENSG00000066117↗(opens in a new tab)
- NCBI Gene 6602↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q13.12
- Coordinates
- Chromosome 12: 50,085,342–50,100,707 (GRCh38)
- Exons
- 13 exons across 15.4 kb
- Protein
- 515 amino acids
- Also known as
- BAF60A, Rsc6p, CRACD1
- MANE Select transcript
- ENST00000394963.9NM_003076.5
- 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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No Genome Test report reads SMARCD1 yet. The test sequences your whole genome, so your data includes it all the same.
How SMARCD1 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 3.3 kb of the gene's 15.4 kb; 1,548 of those bases code for the protein.
How a genome test reads SMARCD1
1
position in SMARCD1 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 15.4 kb of SMARCD1, introns included, not only the 3.3 kb of exons.
Traits linked to SMARCD1
The Human Phenotype Ontology lists these as features of the rare conditions SMARCD1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Coarse facial features
- Full lower lip
- Prominent eyelashes
- Thick eyebrow
- Wide mouth
- Abnormal facial shape
- Broad nasal tip
- Broad philtrum
Show 21 more traits
- Delayed eruption of teeth
- Depressed nasal bridge
- High palate
- Low frontal hairline
- Low hairline at back of neck
- Nasal tip, upturned
- Recurrent colds
- Short nose
- Sparse scalp hair
- Thick nasal alae
- Thin red part of the upper lip
- Wide nasal base
- Bifid uvula
- Bulbous nose
- Cleft soft palate
- Dandy-Walker malformation
- Downturned corners of mouth
- Frontal bossing
- Narrow forehead
- Prominent metopic ridge
- Abnormally small head
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.). SMARCD1 gene: SWI/SNF related BAF chromatin remodeling complex subunit D1. Retrieved 17 October 2026, from https://dantelabs.com/genes/smarcd1
Dante Labs. SMARCD1 gene: SWI/SNF related BAF chromatin remodeling complex subunit D1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/smarcd1
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