SALL1 gene homepage

General information
Gene symbol SALL1
Gene name sal-like 1 (Drosophila)
Chromosome 16
Chromosomal band q12.1
Imprinted Unknown
Genomic reference NG_007990.1
Transcript reference NM_002968.2
Exon/intron information NM_002968.2 exon/intron table
Associated with diseases ID, TBS, TBS-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 97
Unique public DNA variants reported 73
Individuals with public variants 1
Hidden variants 10
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 August 01, 2018
Version SALL1:180801

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_002968.2.
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/SALL1
HGNC 10524
Entrez Gene 6299
PubMed articles SALL1
OMIM - Gene 602218
OMIM - Diseases TBS-1 (syndrome, Townes-Brocks, type 1 (TBS-1))
HGMD SALL1
GeneCards SALL1
GeneTests SALL1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018378 16 transcript variant 1 NM_002968.2 NP_002959.2 97


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