Gene
SLC7A14
solute carrier family 7 member 14
- HGNC 29326↗(opens in a new tab)
- Ensembl gene ENSG00000013293↗(opens in a new tab)
- NCBI Gene 57709↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q26.2
- Coordinates
- Chromosome 3: 170,459,548–170,586,075 (GRCh38)
- Exons
- 8 exons across 126.5 kb
- Protein
- 771 amino acids
- Also known as
- KIAA1613, PPP1R142
- MANE Select transcript
- ENST00000231706.6NM_020949.3
- 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.
Read SLC7A14, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads SLC7A14 yet. The test sequences your whole genome, so your data includes it all the same.
How SLC7A14 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 10.1 kb of the gene's 126.5 kb; 2,316 of those bases code for the protein.
How a genome test reads SLC7A14
2
positions in SLC7A14 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 126.5 kb of SLC7A14, introns included, not only the 10.1 kb of exons.
Traits linked to SLC7A14
The Human Phenotype Ontology lists these as features of the rare conditions SLC7A14 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Decreased clarity of vision
- Difficulties with night vision
- Partial loss of field of vision
- Retinal atrophy
- Rod-cone dystrophy
- Spicular pigmentation of the retina
- Abnormal electroretinogram
- Abnormal retinal pigmentation
Show 20 more traits
- Blindness
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Abnormal color vision
- Photopsia
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.). SLC7A14 gene: solute carrier family 7 member 14. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc7a14
Dante Labs. SLC7A14 gene: solute carrier family 7 member 14 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc7a14
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks