{{Rsnum
|rsid=698761
|Gene=SLC3A1
|Chromosome=2
|position=44320435
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4573
|Gene_s=PREPL,SLC3A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 44.2 | 43.4 | 12.4
| HCB | 9.5 | 46.7 | 43.8
| JPT | 17.7 | 48.7 | 33.6
| YRI | 2.7 | 34.0 | 63.3
| ASW | 7.0 | 38.6 | 54.4
| CHB | 9.5 | 46.7 | 43.8
| CHD | 10.1 | 34.9 | 55.0
| GIH | 43.6 | 44.6 | 11.9
| LWK | 1.8 | 22.0 | 76.1
| MEX | 36.8 | 49.1 | 14.0
| MKK | 14.2 | 36.1 | 49.7
| TSI | 48.0 | 47.1 | 4.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=698761
|allele=A
|frequency=0.325
|uid=1103658084574
|type=heterozygous_SNP
|hugo=SLC3A1
|ensembl gene=ENSG00000138079
|ensembl transcript=ENST00000378520
|sift=TOLERATED
|disease=Defects in SLC3A1 are a cause of cystinuria type I (CSNU1) (MIM:220100); also called cystinuria (CSNU), which arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. Three types of cystinuria have been described.
}}

{{GET Evidence
|gene=SLC3A1
|aa_change=Met618Ile
|aa_change_short=M618I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs698761
|overall_frequency_n=5828
|overall_frequency_d=10758
|overall_frequency=0.541736
|n_genomes=32
|n_genomes_annotated=0
|n_haplomes=41
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.003
|genetests_testable=Y
|nblosum100=-1
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}