Important Haplotype Information for SULT1A1
Submitted by: Michelle Hildebrandt, Araba Adjei, Richard Weinshilboum, and Julie A. Johnson(PPII)
Reviewed by: Zeruesenay Desta, Anne Nguyen, and David Flockhart (COBRA)
Submitted date: January 19, 2007
There is One Important Haplotype for SULT1A1.
- SULT1A1: (638G>A, -624G>C and -396A>G)
| Gene HGNC Name: | SULT1A1 |
|---|---|
| Haplotype Significance: | This haplotype contains one nonsynonymous SNP (638G>A, Arg213His) and two SNPs located within the 5'-flanking region of the gene (-624G>C and -396A>G). This haplotype is associated with variation in SULT1A1 enzyme activity in the platelet. |
| Definitive Publication or Website: | Common genetic polymorphisms in the 5'-flanking region of the SULT1A1 gene: haplotypes and their association with platelet enzymatic activity. Ning B, Nowell S, Sweeney C, Ambrosone CB, Williams S, Miao X, Liang G, Lin D, Stone A, Ratnasinghe DL, Manjanatha M, Lang NP, Kadlubar FF. Pharmacogenet Genomics. 2005 Jul;15(7):465-73. PMID: 15970794 |
| How many SNPs, indels, repeats define this haplotype? | Three: SULT1A1*2 (638G>A) , SULT1A1: -624 G>C and SULT1A1: -396 A>G |