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GAA c.1796C>G ;(p.S599C)
Variant ID: 17-78086418-C-G
NM_000152.3(
GAA
):c.1796C>G;(p.S599C)
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:
Mutagenesis and cysteine scanning of transmembrane domain 10 of the human dipeptide transporter.
Pharmaceutical Research
Xu, Liya L; Haworth, Ian S IS; Kulkarni, Ashutosh A AA; Bolger, Michael B MB; Davies, Daryl L DL
Publication Date: 2009-10
Variant appearance in text: GAA: S599C
PubMed Link:
19685173
Variant Present in the following documents:
Main text
View BVdb publication page