LOVD SPTLC2 homepage

General information
Gene name serine palmitoyltransferase, long chain base subunit 2
Gene symbol SPTLC2
Chromosome Location 14q24.3
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen and Bernd Rautenstrauss
PubMed references View all (unique) PubMed references in the SPTLC2 database
Date of creation May 23, 2012
Last update March 31, 2017
Version SPTLC2 170331
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_028282.1
Transcript refseq ID NM_004863.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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NOTE Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the SPTLC2 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 11278
Entrez Gene 9517
OMIM - Gene 605713
HGMD SPTLC2
GeneCards SPTLC2
GeneTests SPTLC2

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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