Variant ID: 15-28472485-C-T

NM_004667.5(HERC2):c.5464+879G>A

This variant was identified in 2 publications




Publications:


Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.

Human Molecular Genetics
JL Aponte, MN Chiano, LM Yerges-Armstrong, DA Hinds, C Tian, A Gupta, C Guo, DJ Fraser, JM Freudenberg, DK Rajpal, MG Ehm, DM Waterworth
Publication Date: 2018-08-01

Variant appearance in text: rs8030709
PubMed Link: 29771307
Variant Present in the following documents:
  • ddy184_suppltable1_hmg_v2.xlsx
View BVdb publication page



Importance of nonsynonymous OCA2 variants in human eye color prediction.

Molecular Genetics & Genomic Medicine
JD Andersen, C Pietroni, P Johansen, MM Andersen, V Pereira, C Børsting, N Morling
Publication Date: 2016-07

Variant appearance in text: rs8030709
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261609.7 c.5464+879G>A - intron_variant - 35/92
ENST00000569335.1 n.514+879G>A - intron_variant,non_coding_transcript_variant - 2/2
NM_004667.5 c.5464+879G>A - intron_variant - 35/92