present in Gene: SLC7A9
present in Chromosome: 19
Position on Chromosome: 32864778
Alleles of this Variant: T/C
rs1085307095 in
SLC7A9 gene and
Cystinuria
PMID 15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
PMID 15670723 2005 Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.