C_391523699_10

• SNP ID: rs755524362
• Gene: SGCD
• Gene Name: sarcoglycan delta
• Set Membership: -
• Chromosome Location: Chr.5: 156271854 - 156271854 on Build GRCh38
• Polymorphism: C/G, Transversion substitution
• Context Sequence [VIC/FAM]:

  GTGCAGTGGATAGCTCATTCCCAGA[C/G]AGAACACCAACATTCTGATAAATAA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 601411
Literature Links:	SGCD PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

SGCD - sarcoglycan delta
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_000337.5		Intron			NP_000328.2
NM_001128209.1		Intron			NP_001121681.1
NM_172244.2		Intron			NP_758447.1
XM_005265966.4		Intron			XP_005266023.1
XM_005265967.2		Intron			XP_005266024.1
XM_011534621.2		Intron			XP_011532923.1
XM_017009723.1		Intron			XP_016865212.1
XM_017009724.1		Intron			XP_016865213.1

More Information

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Process(es)

muscle organ development
cardiac muscle tissue development
muscle cell development
heart contraction
membrane organization