SURF1 gene homepage

General information
Gene symbol SURF1
Gene name surfeit 1
Chromosome 9
Chromosomal band q33-q34
Imprinted Unknown
Genomic reference NG_008477.1
Transcript reference NM_003172.3
Exon/intron information NM_003172.3 exon/intron table
Associated with diseases ID, LS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 18
Unique public DNA variants reported 18
Individuals with public variants 8
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated February 16, 2018
Version SURF1:180216

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_003172.3.
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/SURF1
External URL Orphanet
HGNC 11474
Entrez Gene 6834
PubMed articles SURF1
OMIM - Gene 185620
OMIM - Diseases LS (Leigh syndrome (LS))
HGMD SURF1
GeneCards SURF1
GeneTests SURF1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024196 9 transcript variant 1 NM_003172.3 NP_003163.1 18


Copyright & disclaimer
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