SLC47A1
Chr 17solute carrier family 47 member 1
Also known as: MATE1
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 0.85
OE 0.83 (0.60–1.17)
Highly tolerant — LoF variants common in population
Missense Constraint?
-0.19Z-score
OE missense 1.03 (0.94–1.13)
334 obs / 324.6 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.83 (0.60–1.17)
0≤0.351.4
Missense OE?1.03 (0.94–1.13)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 24 / 28.9Missense obs/exp: 334 / 324.6Syn Z: -0.39
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC47A1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools