SNRPA Chromosome 19

Small nuclear ribonucleoprotein polypeptide A
2 variants 2 Health Risk

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What This Gene Does
The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]
Gene Info
Gene Group
"RNA binding motif containing|U1 small nuclear ribonucleoprotein"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000077312
Associated Conditions (1)
Spliceosomepathy
Key Variants
RS1555775208
Likely pathogenic
Spliceosomepathy, Spliceosomepathy
Health Risk
RS1555775209
Likely pathogenic
Spliceosomepathy, Spliceosomepathy
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS1555775208 Health Risk Likely pathogenic Spliceosomepathy, Spliceosomepathy
RS1555775209 Health Risk Likely pathogenic Spliceosomepathy, Spliceosomepathy
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