Annotation Detail

Information
Associated Genes
SLC6A2
Associated Variants
SLC6A2 MUTATION
SLC6A2 MUTATION
SLC6A2 p.Thr429= (p.T429=) ( ENST00000567238.1, ENST00000568943.6, ENST00000561820.5, ENST00000219833.13, ENST00000566163.5, ENST00000414754.7, ENST00000379906.6 )
SLC6A2 p.Thr429= (p.T429=) ( ENST00000566163.5, ENST00000219833.13, ENST00000414754.7, ENST00000379906.6, ENST00000567238.1, ENST00000561820.5, ENST00000568943.6 )
SLC6A2 p.Thr429= (p.T429=) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 )
SLC6A2 p.Thr429= (p.T429=) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 )
Associated Disease
Hypertensive disease
Source Database
DisGeNET
Description
A silent G1287A nucleotide substitution in exon 9 of the NET gene was studied in human conditions involving hypertension.
Pubmed
17124432
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.128272739815912
Year of publication
2006
Drugs