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A2ML1 c.3789C>G ;(p.N1263K)
Variant ID: 12-9020509-C-G
NM_144670.4(
A2ML1
):c.3789C>G;(p.N1263K)
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:
Human PZP and common marmoset A2ML1 as pregnancy related proteins.
Scientific Reports
Kashiwagi, Hirofumi H; Ishimoto, Hitoshi H; Izumi, Sun-Ichiro SI; Seki, Toshiro T; Kinami, Rihito R; Otomo, Asako A; Takahashi, Kazumi K; Kametani, Fuyuki F; Hirayama, Noriaki N; Sasaki, Erika E; Shiina, Takashi T; Sakabe, Kou K; Mikami, Mikio M; Kametani, Yoshie Y
Publication Date: 2020-03-20
Variant appearance in text: rs144876785
PubMed Link:
32198464
Variant Present in the following documents:
41598_2020_61714_MOESM1_ESM.pdf
View BVdb publication page