PharmGKB: The Pharmacogenetics and Pharmacogenomics Knowledge Base
Search PharmGKB:?
 

Important Splice Variant Information for SLC19A1

Submitted by: Ilaria Badagnani (PMT)
Reviewed by: Reviewed
Submitted date: July 11, 2006

There are Three Important Splice Variants for SLC19A1.

  1. SLC19A1:Variant I
  2. SLC19A1:Variant II
  3. SLC19A1:Variant III


1. SLC19A1:Variant I

Gene HGNC Name: SLC19A1
Splice Variant Summary: Variant I incorporates exon 1a and exons 2-6 [PMID: 9602167].
Definitive Publication or Website
for this splice variation: 		PMID: 9602167


2. SLC19A1:Variant 2

Gene HGNC Name: SLC19A1
Splice Variant Summary: Variant II incorporates exon 1b and exons 2-6. It also incorporates sequences homologous to exon 6 with an internal segment of 626 nucleotides in length deleted, but this may be an artifact [PMID:9602167].
Definitive Publication or Website for this splice variation: PMID: 9602167


2. SLC19A1:Variant 3

 Gene HGNC Name: SLC19A1
Splice Variant Summary: Variant III incorporates exon 1c, exon 2, a truncated exon 3 and deletion of exons 4-6 [PMID: 9602167].
Definitive Publication or Website
 for this splice variation: 		PMID: 9602167
The PGRN is financially supported by grants from NIGMS, NHLBI, NHGRI, NIEHS, NCI, and NLM within the NIH, HHS. PharmGKB is managed at Stanford University. This work is supported by the NIH/NIGMS Pharmacogenetics Research Network and Database (U01GM61374). ©2001-2008 PharmGKB.