Hs02040480_cn

• Gene Symbol: FKRP
• Assay Reference Genome Location: Chr.19:46757581 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	2480	NP_001034974.1
	NM_024301.4	4	2428	NP_077277.1
	XM_005259247.2	5	2541	XP_005259304.1
	XM_005259248.2	5	2531	XP_005259305.1
	XM_005259249.4	5	2473	XP_005259306.1
	XM_011527306.1	3	2277	XP_011525608.1
	XM_011527307.1	4	2326	XP_011525609.1
	XM_017027297.1	4	2647	XP_016882786.1
	AJ314847.1	4	2416	CAC85633.1
	AK022638.1	4	2416	BAB14146.1
	AK095497.1	4	2467
	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	LOC107987269 STRN4 PRKD2 SLC1A5 ARHGAP35 MIR320E FKRP AP2S1 SNAR-E

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein processing
protein O-linked mannosylation

Function(s)

transferase activity