Product Details

Assay Reference Genome Location: Chr.19:46750393 on build GRCh38
Cytoband: 19q13.32
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 79147
Gene Symbol: FKRP
Gene Name: fukutin related protein
Gene Aliases: LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
Location: Chr.19:46746015-46758575 on build GRCh38
Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
FKRP	NM_001039885.2			NP_001034974.1
	NM_024301.4			NP_077277.1
	XM_005259247.2			XP_005259304.1
	XM_005259248.2			XP_005259305.1
	XM_005259249.4			XP_005259306.1
	XM_011527306.1			XP_011525608.1
	XM_011527307.1			XP_011525609.1
	XM_017027297.1			XP_016882786.1
	AJ314847.1			CAC85633.1
	AK022638.1			BAB14146.1
	AK095497.1
	AK291282.1
	BC002612.2			AAH02612.1
	BM979509.1
	DA123579.1
	DB090073.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833850	Chr19:46703285 - 46867053 on Build GRCh38	Loss	SNAR-E FKRP SLC1A5 LOC107987269 STRN4 PRKD2 MIR320E ARHGAP35 AP2S1

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