Variant: rs121912693 

    present in Gene: SLC3A1;PREPL
    present in Chromosome: 2
    Position on Chromosome: 44320614
    Alleles of this Variant: T/C

rs121912693 in SLC3A1;PREPL gene and Cystinuria PMID 7575432 1995 Mutations of the basic amino acid transporter gene associated with cystinuria.

PMID 8054986 1994 Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

PMID 9186880 1997 Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.

PMID 15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PMID 12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PMID 10738006 2000 Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.

PMID 19782624 2010 Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

PMID 7573036 1995 Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

PMID 21863055 2012 Clinical utility gene card for: Cystinuria.

PMID 16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PMID 11748844 2001 Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

PMID 16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PMID 7539209 1995 Mutations in the SLC3A1 transporter gene in cystinuria.