Product Details

Assay Reference Genome
Location

Chr.19:46756284 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 1183 NP_001034974.1
NM_024301.4 4 1131 NP_077277.1
XM_005259247.2 5 1244 XP_005259304.1
XM_005259248.2 5 1234 XP_005259305.1
XM_005259249.4 5 1176 XP_005259306.1
XM_011527306.1 3 980 XP_011525608.1
XM_011527307.1 4 1029 XP_011525609.1
XM_017027297.1 4 1350 XP_016882786.1
AJ314847.1 4 1119 CAC85633.1
AK022638.1 4 1119 BAB14146.1
AK095497.1 4 1170
AK291282.1 4 1119
BC002612.2 2 927 AAH02612.1
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 FKRP LOC107987269 SNAR-E PRKD2 STRN4 SLC1A5 MIR320E ARHGAP35 AP2S1

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