Product Details

Assay Reference Genome
Location

Chr.19:46755619 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 4 518 NP_001034974.1
NM_024301.4 4 466 NP_077277.1
XM_005259247.2 5 579 XP_005259304.1
XM_005259248.2 5 569 XP_005259305.1
XM_005259249.4 5 511 XP_005259306.1
XM_011527306.1 3 315 XP_011525608.1
XM_011527307.1 4 364 XP_011525609.1
XM_017027297.1 4 685 XP_016882786.1
AJ314847.1 4 454 CAC85633.1
AK022638.1 4 454 BAB14146.1
AK095497.1 4 505
AK291282.1 4 454
BC002612.2 2 262 AAH02612.1
BM979509.1
DA123579.1 4 395
DN999716.1 1 187

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 PRKD2 MIR320E FKRP SNAR-E SLC1A5 STRN4 AP2S1 ARHGAP35 LOC107987269

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