Variant: rs267607077 

    present in Gene: SNRNP200
    present in Chromosome: 2
    Position on Chromosome: 96287968
    Alleles of this Variant: G/A

rs267607077 in SNRNP200 gene and RETINITIS PIGMENTOSA 33 (disorder) PMID 19710410 2010 Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

PMID 23887765 2013 Contribution of SNRNP200 sequence variations to retinitis pigmentosa.

PMID 23045696 2012 Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome.

PMID 16723661 2006 The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.

PMID 19878916 2009 Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

PMID 21618346 2011 Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.

PMID 23029027 2012 A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.

PMID 24319334 2013 Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.

rs267607077 in SNRNP200 gene and Retinitis Pigmentosa PMID 19878916 2009 The c.3260C>T substitution showed complete cosegregation with the retinitis pigmentosa (RP) phenotype over four generations, but was absent in a panel of 400 controls.