Variant: rs75030631 

    present in Gene: SMN2
    present in Chromosome: 5
    Position on Chromosome: 70049690
    Alleles of this Variant: C/G

rs75030631 in SMN2 gene and Juvenile Spinal Muscular Atrophy PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

rs75030631 in SMN2 gene and Muscular Atrophy, Spinal, Type II PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

PMID 10732802 1998 Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.

PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

PMID 21088113 2011 HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.

PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.