SNRNP48

Chr 6

small nuclear ribonucleoprotein U11/U12 subunit 48

Also known as: C6orf151, dJ336K20B.1, dJ512B11.2

NCBI Gene: 154007ENSG00000168566UniProt: Q6IEG0

Predicted to enable zinc ion binding activity. Predicted to be involved in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11). Located in nucleoplasm. Part of U12-type spliceosomal complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.17
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 0.99
OE 0.76 (0.51–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.37Z-score
OE missense 0.70 (0.60–0.81)
114 obs / 163.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.51–1.17)
0≤0.351.4
Missense OE?0.70 (0.60–0.81)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 15 / 19.7Missense obs/exp: 114 / 163.5Syn Z: 0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SNRNP48 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients