Basic Information

SGCD

Full name: sarcoglycan delta

Gene type: protein coding

HGNC ID: HGNC:10807

Gene location: 5q33.2-q33.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/6444

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:10807

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000337.6

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q92629

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q92629

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/601411

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=6444

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa05410+6444

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
SGCD	late AMD	Intron Variant	rs970476	T>A / T>G	chr5:156375070 (GRCh38.p13)
SGCD	late AMD	Intron Variant	rs931798	A>G	chr5:156383813 (GRCh38.p13)
SGCD	late AMD	Intron Variant	rs140617	A>G	chr5:156383923 (GRCh38.p13)
SGCD	late AMD	Intron Variant	rs140616	T>C / T>G	chr5:156383944 (GRCh38.p13)