The ZNF513 gene homepage

General information
Gene symbol ZNF513
Gene name zinc finger protein 513
Chromosome 2
Chromosomal band p23.3
Imprinted Unknown
Genomic reference NG_028219.1
Transcript reference NM_001201459.1, NM_144631.5
Associated with diseases RP-58
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 40
Unique public DNA variants reported 13
Individuals with public variants 28
Hidden variants -
Date created November 30, -0001
Date last updated September 23, 2016
Version ZNF513:160923

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:26498
Entrez Gene 130557
PubMed articles ZNF513
OMIM - Gene 613598
OMIM - Diseases RP-58 (retinitis pigmentosa, type 58 (RP-58))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00027338 2 transcript variant 1 NM_144631.5 NP_653232.3 40
00027339 2 transcript variant 2 NM_001201459.1 NP_001188388.1 40