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) Global Variome, with Curator vacancy
Total number of public variants reported 14
Unique public DNA variants reported 12
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 June 19, 2020
Version ELOVL5:200619

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))
GeneCards ELOVL5
GeneTests ELOVL5

Active transcripts




NCBI ID     

NCBI Protein ID     

00007051 6 transcript variant 1 NM_021814.4 NP_068586.1 14

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.