Variant ID: 15-28359258-G-A

NM_004667.5(HERC2):c.13914-434C>T

This variant was identified in 4 publications




Publications:


Early farmers from across Europe directly descended from Neolithic Aegeans.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Z Hofmanová, S Kreutzer, G Hellenthal, C Sell, Y Diekmann, D Díez-Del-Molino, L van Dorp, S López, A Kousathanas, V Link, K Kirsanow, LM Cassidy, R Martiniano, M Strobel, A Scheu, K Kotsakis, P Halstead, S Triantaphyllou, N Kyparissi-Apostolika, D Urem-Kotsou, C Ziota, F Adaktylou, S Gopalan, DM Bobo, L Winkelbach, J Blöcher, M Unterländer, C Leuenberger, Ç Çilingiroğlu, B Horejs, F Gerritsen, SJ Shennan, DG Bradley, M Currat, KR Veeramah, D Wegmann, MG Thomas, C Papageorgopoulou, J Burger
Publication Date: 2016-06-21

Variant appearance in text: rs12593929
PubMed Link: 27274049
Variant Present in the following documents:
  • pnas.1523951113.sapp.pdf
View BVdb publication page



Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.

Nature
I Olalde, ME Allentoft, F Sánchez-Quinto, G Santpere, CW Chiang, M DeGiorgio, J Prado-Martinez, JA Rodríguez, S Rasmussen, J Quilez, O Ramírez, UM Marigorta, M Fernández-Callejo, ME Prada, JM Encinas, R Nielsen, MG Netea, J Novembre, RA Sturm, P Sabeti, T Marquès-Bonet, A Navarro, E Willerslev, C Lalueza-Fox
Publication Date: 2014-03-13

Variant appearance in text: rs12593929
PubMed Link: 24463515
Variant Present in the following documents:
  • NIHMS643758-supplement-Supplementary_Online_Material.docx
View BVdb publication page



Genetics of eye colours in different rural populations on the Silk Road.

European Journal Of Human Genetics : Ejhg
S Ulivi, M Mezzavilla, P Gasparini
Publication Date: 2013-11

Variant appearance in text: rs12593929
PubMed Link: 23486544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Digital quantification of human eye color highlights genetic association of three new loci.

Plos Genetics
F Liu, A Wollstein, PG Hysi, GA Ankra-Badu, TD Spector, D Park, G Zhu, M Larsson, DL Duffy, GW Montgomery, DA Mackey, S Walsh, O Lao, A Hofman, F Rivadeneira, JR Vingerling, AG Uitterlinden, NG Martin, CJ Hammond, M Kayser
Publication Date: 2010-05-06

Variant appearance in text: rs12593929
PubMed Link: 20463881
Variant Present in the following documents:
  • pgen.1000934.s005.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261609.7 c.13914-434C>T - intron_variant - 90/92
ENST00000566635.1 n.1039-434C>T - intron_variant,non_coding_transcript_variant - 4/6
NM_004667.5 c.13914-434C>T - intron_variant - 90/92