Product Details

Assay Reference Genome
Location

Chr.19:46757113 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 2012 NP_001034974.1
NM_024301.4 4 1960 NP_077277.1
XM_005259247.2 5 2073 XP_005259304.1
XM_005259248.2 5 2063 XP_005259305.1
XM_005259249.4 5 2005 XP_005259306.1
XM_011527306.1 3 1809 XP_011525608.1
XM_011527307.1 4 1858 XP_011525609.1
XM_017027297.1 4 2179 XP_016882786.1
AJ314847.1 4 1948 CAC85633.1
AK022638.1 4 1948 BAB14146.1
AK095497.1 4 1999
AK291282.1 4 1948
BC002612.2 2 1756 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 SLC1A5 ARHGAP35 SNAR-E FKRP STRN4 AP2S1 LOC107987269 MIR320E PRKD2

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