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APP c.1036T>G ;(p.S346A)
Variant ID: 21-27369729-A-C
NM_000484.3(
APP
):c.1036T>G;(p.S346A)
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:
Brain endothelial cells produce amyloid {beta} from amyloid precursor protein 770 and preferentially secrete the O-glycosylated form.
The Journal Of Biological Chemistry
Kitazume, Shinobu S; Tachida, Yuriko Y; Kato, Masaki M; Yamaguchi, Yoshiki Y; Honda, Takashi T; Hashimoto, Yasuhiro Y; Wada, Yoshinao Y; Saito, Takashi T; Iwata, Nobuhisa N; Saido, Takaomi T; Taniguchi, Naoyuki N
Publication Date: 2010-12-17
Variant appearance in text: APP: S346A
PubMed Link:
20952385
Variant Present in the following documents:
Main text
View BVdb publication page