USP9Y c.3178G>A ;(p.A1060T)

Variant ID: Y-14898163-G-A

NM_004654.3(USP9Y):c.3178G>A;(p.A1060T)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Associations between moderate alcohol consumption, brain iron, and cognition in UK Biobank participants: Observational and mendelian randomization analyses.

Plos Medicine
Topiwala, Anya A; Wang, Chaoyue C; Ebmeier, Klaus P KP; Burgess, Stephen S; Bell, Steven S; Levey, Daniel F DF; Zhou, Hang H; McCracken, Celeste C; Roca-Fernández, Adriana A; Petersen, Steffen E SE; Raman, Betty B; Husain, Masud M; Gelernter, Joel J; Miller, Karla L KL; Smith, Stephen M SM; Nichols, Thomas E TE
Publication Date: 2022-07

Variant appearance in text: rs20320
PubMed Link: 35834561
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative Y-chromosome analysis among Cypriots in the context of historical events and migrations.

Plos One
Moutsouri, Irene I; Keravnou, Anna A; Manoli, Panayiotis P; Bertoncini, Stefania S; Michailidou, Kyriaki K; Christofi, Vasilis V; Xenophontos, Stavroulla S; Cariolou, Marios A MA; Bashiardes, Evy E
Publication Date: 2021

Variant appearance in text: rs20320
PubMed Link: 34424929
Variant Present in the following documents:
  • Main text
  • pone.0255140.pdf
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: USP9Y: 3178G>A; A1060T; rs20320
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure.

Asian Journal Of Andrology
Cannarella, Rossella R; Condorelli, Rosita A RA; Paolacci, Stefano S; Barbagallo, Federica F; Guerri, Giulia G; Bertelli, Matteo M; La Vignera, Sandro S; Calogero, Aldo E AE
Publication Date: 2021

Variant appearance in text: USP9Y: 3178G>A; Ala1060Thr; rs20320
PubMed Link: 32655042
Variant Present in the following documents:
  • Main text
  • AJA-23-24.pdf
View BVdb publication page



Forensic use of Y-chromosome DNA: a general overview.

Human Genetics
Kayser, Manfred M
Publication Date: 2017-05

Variant appearance in text: rs20320
PubMed Link: 28315050
Variant Present in the following documents:
  • Main text
  • 439_2017_Article_1776.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs20320
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Blind study evaluation illustrates utility of the Ion PGM™ system for use in human identity DNA typing.

Croatian Medical Journal
Churchill, Jennifer D JD; Chang, Joseph J; Ge, Jianye J; Rajagopalan, Narasimhan N; Wootton, Sharon C SC; Chang, Chien-Wei CW; Lagacé, Robert R; Liao, Wenchi W; King, Jonathan L JL; Budowle, Bruce B
Publication Date: 2015-06

Variant appearance in text: rs20320
PubMed Link: 26088846
Variant Present in the following documents:
  • Main text
  • CroatMedJ_56_0218.pdf
View BVdb publication page



The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

Molecular Biology And Evolution
Hallast, Pille P; Batini, Chiara C; Zadik, Daniel D; Maisano Delser, Pierpaolo P; Wetton, Jon H JH; Arroyo-Pardo, Eduardo E; Cavalleri, Gianpiero L GL; de Knijff, Peter P; Destro Bisol, Giovanni G; Dupuy, Berit Myhre BM; Eriksen, Heidi A HA; Jorde, Lynn B LB; King, Turi E TE; Larmuseau, Maarten H MH; López de Munain, Adolfo A; López-Parra, Ana M AM; Loutradis, Aphrodite A; Milasin, Jelena J; Novelletto, Andrea A; Pamjav, Horolma H; Sajantila, Antti A; Schempp, Werner W; Sears, Matt M; Tolun, Aslıhan A; Tyler-Smith, Chris C; Van Geystelen, Anneleen A; Watkins, Scott S; Winney, Bruce B; Jobling, Mark A MA
Publication Date: 2015-03

Variant appearance in text: USP9Y: A1060T; rs20320
PubMed Link: 25468874
Variant Present in the following documents:
  • supp_msu327_Hallast_TablesS1-3_5-11Revised281014.xls, sheet 8
View BVdb publication page



An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa.

Genome Research
Scozzari, Rosaria R; Massaia, Andrea A; Trombetta, Beniamino B; Bellusci, Giovanna G; Myres, Natalie M NM; Novelletto, Andrea A; Cruciani, Fulvio F
Publication Date: 2014-03

Variant appearance in text: USP9Y: A1060T; rs20320
PubMed Link: 24395829
Variant Present in the following documents:
  • supp_gr.160788.113_Table_S4.xlsx, sheet 1
View BVdb publication page



Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection.

American Journal Of Human Genetics
Rozen, Steve S; Marszalek, Janet D JD; Alagappan, Raaji K RK; Skaletsky, Helen H; Page, David C DC
Publication Date: 2009-12

Variant appearance in text: USP9Y: Ala1060Thr
PubMed Link: 20004767
Variant Present in the following documents:
  • Main text
View BVdb publication page