ELOVL5 gene homepage

General information
Gene symbol ELOVL5
Gene name ELOVL fatty acid elongase 5
Chromosome 6
Chromosomal band p21.1-p12.1
Imprinted Unknown
Genomic reference NC_000006.11
Transcript reference NM_021814.4
Exon/intron information NM_021814.4 exon/intron table
Associated with diseases SCA-38
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 8
Unique public DNA variants reported 6
Individuals with public variants 39
Hidden variants 0
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated December 24, 2014
Version ELOVL5:141224

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_021814.4.
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
Homepage URL http://www.LOVD.nl/ELOVL5
HGNC 21308
Entrez Gene 60481
PubMed articles ELOVL5
OMIM - Gene 611805
OMIM - Diseases SCA-38 (ataxia, spinocerebellar, type 38 (SCA-38))
HGMD ELOVL5
GeneCards ELOVL5
GeneTests ELOVL5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007051 6 transcript variant 1 NM_021814.4 NP_068586.1 8


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