{{Rsnum
|rsid=2242046
|Gene=SLC28A1
|Chromosome=15
|position=84935498
|Orientation=minus
|GMAF=0.2571
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SLC28A1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 23.0 | 52.2 | 24.8
| HCB | 86.0 | 13.2 | 0.7
| JPT | 91.1 | 8.9 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 82.5 | 15.8 | 1.8
| CHB | 86.0 | 13.2 | 0.7
| CHD | 87.0 | 13.0 | 0.0
| GIH | 56.4 | 39.6 | 4.0
| LWK | 89.1 | 10.9 | 0.0
| MEX | 44.8 | 50.0 | 5.2
| MKK | 59.6 | 37.2 | 3.2
| TSI | 14.9 | 46.5 | 38.6
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs2242046
|Name_s=SLC28A1:1576T>C, N521D
|Gene_s=SLC28A1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:15224082
|Annotation=Risk or phenotype-associated allele: None. Phenotype: Variants identified in a screen of 13 genes involved in the gemcitabine drug metabolic pathway. For the non-synonymous SLC28A1:1576T>C (N521D) SNP, the C (521Asp) allele was at frequency was 0.47 and 0.00 in Europeans and Africans, respectively. There was a significant difference between ethnic groups in genotype frequency distribution (p < 0.001). Study size: 185. Study population/ethnicity: Healthy, unrelated blood donors of European (n = 94) and African (n = 91) descent. Significance metric(s): p < 0.001. Type of association: GN.
|Drugs=gemcitabine
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165110720
}}

{{GET Evidence
|gene=SLC28A1
|aa_change=Asp521Asn
|aa_change_short=D521N
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2242046
|overall_frequency_n=3869
|overall_frequency_d=10758
|overall_frequency=0.359639
|n_genomes=27
|n_genomes_annotated=0
|n_haplomes=32
|n_articles=1
|n_articles_annotated=1
|in_pharmgkb=Y
|nblosum100=-1
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}