NPC1 c.554A>G ;(p.N185S)

Variant ID: 18-21141401-T-C

NM_000271.4(NPC1):c.554A>G;(p.N185S)

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:

Divergent evolution of vitamin B9 binding underlies Juno-mediated adhesion of mammalian gametes.

Current Biology : Cb
Han, Ling L; Nishimura, Kaoru K; Sadat Al Hosseini, Hamed H; Bianchi, Enrica E; Wright, Gavin J GJ; Jovine, Luca L
Publication Date: 2016-02-08

Variant appearance in text: NPC1: N185S
PubMed Link: 26859261
Variant Present in the following documents:
  • Main text
View BVdb publication page