SERAC1 gene homepage

General information
Gene symbol SERAC1
Gene name serine active site containing 1
Chromosome 6
Chromosomal band q25.3
Imprinted Unknown
Genomic reference NG_032889.1
Transcript reference NM_032861.3
Exon/intron information NM_032861.3 exon/intron table
Associated with diseases ID, MEGDEL
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 46
Unique public DNA variants reported 37
Individuals with public variants 18
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 01, 2018
Version SERAC1:180101

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_032861.3.
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 https://www.LOVD.nl/SERAC1
HGNC 21061
Entrez Gene 84947
PubMed articles SERAC1
OMIM - Gene 614725
OMIM - Diseases MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (MEGDEL))
HGMD SERAC1
GeneCards SERAC1
GeneTests SERAC1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018684 6 serine active site containing 1 NM_032861.3 NP_116250.3 46


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