SNAPC4 Chromosome 9
Small nuclear RNA activating complex polypeptide 4
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What This Gene Does
This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"Myb/SANT domain containing|SNAP complex "
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000165684
Associated Conditions (4)
Inborn genetic diseases
Neurodevelopmental disorder with motor regression
progressive spastic paraplegia
and oromotor dysfunction
Key Variants
RS201654979
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1194239835
Likely pathogenic
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Health Risk
RS144864297
Pathogenic
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Health Risk
RS2538735580
Pathogenic
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Health Risk
RS754828592
Pathogenic
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Health Risk
RS777017571
Pathogenic
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201654979 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1194239835 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction |
| RS144864297 | Health Risk | Pathogenic | Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction |
| RS2538735580 | Health Risk | Pathogenic | Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction |
| RS754828592 | Health Risk | Pathogenic | Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction |
| RS777017571 | Health Risk | Pathogenic | Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction |