Product Details

Assay Reference Genome
Location

Chr.19:46757581 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 Exon 5
Gene Symbol Transcript Accession Exon Location Assay 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 Chr19:46703285 - 46867053 on Build GRCh38 Loss MIR320E SLC1A5 STRN4 SNAR-E AP2S1 FKRP LOC107987269 PRKD2 ARHGAP35

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