SMN1 c.416C>A ;(p.S139Y)

Variant ID: 5-70238327-C-A

NM_000344.3(SMN1):c.416C>A;(p.S139Y)

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:

Genome expression analysis of nonproliferating intracellular Salmonella enterica serovar Typhimurium unravels an acid pH-dependent PhoP-PhoQ response essential for dormancy.

Infection And Immunity
Núñez-Hernández, Cristina C; Tierrez, Alberto A; Ortega, Alvaro D AD; Pucciarelli, M Graciela MG; Godoy, Marta M; Eisman, Blanca B; Casadesús, Josep J; García-del Portillo, Francisco F
Publication Date: 2013-01

Variant appearance in text: SMA: S139Y
PubMed Link: 23090959
Variant Present in the following documents:
  • Main text
View BVdb publication page