The SGCA gene homepage

General information
Gene symbol SGCA
Gene name sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Chromosome 17
Chromosomal band q21
Imprinted Unknown
Genomic reference LRG_203
Transcript reference NM_000023.2, NM_001135697.1, XM_005257574.1
Associated with diseases LGMD-2, LGMD-2D
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 50
Unique public DNA variants reported 10
Individuals with public variants 35
Hidden variants 30
Date created November 30, -0001
Date last updated September 28, 2016
Version SGCA:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:10805
Entrez Gene 6442
PubMed articles SGCA
OMIM - Gene 600119
OMIM - Diseases LGMD-2D (dystrophy, muscular, limb-girdle, type 2D (LGMD-2D))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022719 17 transcript variant 1 NM_000023.2 NP_000014.1 50
00022720 17 transcript variant 2 NM_001135697.1 NP_001129169.1 47
00038673 17 transcript variant X1 XM_005257574.1 XP_005257631.1 -