Variant ID: 16-28549508-G-A

NM_012385.2(NUPR1):c.113-32C>T

This variant was identified in 3 publications




Publications:


Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records.

Bmc Medical Genomics
NA Restrepo, SM Laper, E Farber-Eger, DC Crawford
Publication Date: 2018-09-14

Variant appearance in text: rs151227
PubMed Link: 30255811
Variant Present in the following documents:
  • 12920_2018_392_MOESM1_ESM.docx
View BVdb publication page



Genome-wide meta-analysis for severe diabetic retinopathy.

Human Molecular Genetics
MA Grassi, A Tikhomirov, S Ramalingam, JE Below, NJ Cox, DL Nicolae
Publication Date: 2011-06-15

Variant appearance in text: rs151227
PubMed Link: 21441570
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic control of individual differences in gene-specific methylation in human brain.

American Journal Of Human Genetics
D Zhang, L Cheng, JA Badner, C Chen, Q Chen, W Luo, DW Craig, M Redman, ES Gershon, C Liu
Publication Date: 2010-03-12

Variant appearance in text: rs151227
PubMed Link: 20215007
Variant Present in the following documents:
  • mmc6.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000324873.6 c.113-32C>T - intron_variant - 1/2
ENST00000395641.2 c.135C>T p.Pro45= synonymous_variant 2/3 -
ENST00000567646.1 c.*110-32C>T - intron_variant,NMD_transcript_variant - 2/3
NM_001042483.2 c.135C>T p.Pro45= synonymous_variant 2/3 -
NM_012385.3 c.113-32C>T - intron_variant - 1/2