SLC22A1 c.515+247C>T

Variant ID: 6-160551486-C-T

NM_003057.2(SLC22A1):c.515+247C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05

Variant appearance in text: rs112201728
PubMed Link: 37277652
Variant Present in the following documents:
  • 41588_2023_1409_MOESM4_ESM.pdf
  • 41588_2023_1409_MOESM5_ESM.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs112201728
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport.

American Journal Of Human Genetics
Kim, Hye In HI; Raffler, Johannes J; Lu, Wenyun W; Lee, Jung-Jin JJ; Abbey, Deepti D; Saleheen, Danish D; Rabinowitz, Joshua D JD; Bennett, Michael J MJ; Hand, Nicholas J NJ; Brown, Christopher C; Rader, Daniel J DJ
Publication Date: 2017-10-05

Variant appearance in text: rs112201728
PubMed Link: 28942964
Variant Present in the following documents:
  • Main text
View BVdb publication page