SIAE c.1096C>G ;(p.L366V)

Variant ID: 11-124509634-G-C

NM_170601.4(SIAE):c.1096C>G;(p.L366V)

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:

M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.

Plos One
Chellappa, Vasant V; Taylor, Kendra N KN; Pedrick, Kathryn K; Donado, Carlos C; Netravali, Ilka Arun IA; Haider, Khaleda K; Cariappa, Annaiah A; Dalomba, Natasha F NF; Pillai, Shiv S
Publication Date: 2013

Variant appearance in text: SIAE: L366V
PubMed Link: 23308225
Variant Present in the following documents:
  • Main text
  • pone.0053453.pdf
View BVdb publication page