Hs04020177_cn

• Gene Symbol: FKRP
• Assay Reference Genome Location: Chr.19:46758538 on build GRCh38
• Cytoband: 19q13.32

Target Gene Details

• Entrez Gene ID: 79147
• Gene Name: fukutin related protein
• Gene Aliases: LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
• Location: Chr.19:46746015-46758575 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FKRP	NM_001039885.2	4	3437	NP_001034974.1
	NM_024301.4	4	3385	NP_077277.1
	AW504292.1	1	45
	BM979509.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833850	Chr.19:46703285 - 46867053 on Build GRCh38	Loss	ARHGAP35 FKRP LOC107987269 STRN4 AP2S1 PRKD2 MIR320E SNAR-E SLC1A5
dgv3608n100	Chr.19:46757741 - 46865807 on Build GRCh38	Gain	ARHGAP35 FKRP AP2S1 SNAR-E SLC1A5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein processing
protein O-linked mannosylation

Function(s)

transferase activity