SCN5A c.988T>G ;(p.S330A)

Variant ID: 3-38649652-A-C

NM_000335.4(SCN5A):c.988T>G;(p.S330A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Evidence of a structural and functional ammonium transporter RhBG·anion exchanger 1·ankyrin-G complex in kidney epithelial cells.

The Journal Of Biological Chemistry
Genetet, Sandrine S; Ripoche, Pierre P; Le Van Kim, Caroline C; Colin, Yves Y; Lopez, Claude C
Publication Date: 2015-03-13

Variant appearance in text: Nav1.5: S330A
PubMed Link: 25616663
Variant Present in the following documents:
  • Main text
View BVdb publication page