Product Details

Assay Reference Genome
Location

Chr.14:67387265 on build GRCh38
Cytoband
14q23.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
10243
Gene Symbol
GPHN
Gene Name
gephyrin
Gene Aliases
GEPH, GPH, GPHRYN, HKPX1, MOCODC
Location
Chr.14:66507407-67735831 on build GRCh38
Assay Gene Location
Within Intron 30
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
GPHN XM_017020925.1 XP_016876414.1
Entrez Gene ID
26499
Gene Symbol
PLEK2
Gene Name
pleckstrin 2
Gene Aliases
Location
Chr.14:67386979-67412200 on build GRCh38
Assay Gene Location
Within Exon 9
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PLEK2 NM_016445.2 9 1267 NP_057529.1
XM_011536644.2 8 1139 XP_011534946.1
AF228603.1 9 1178 AAF34791.1
BC001226.1 9 1211 AAH01226.1
BC008056.2 9 1121 AAH08056.2
BX114063.1 4 397

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2751285 Chr14:66898030 - 67420064 on Build GRCh38 Gain EIF2S1 FAM71D MPP5 LOC105370541 PLEK2 GPHN ATP6V1D
nsv509539 Chr14:67383566 - 67405348 on Build GRCh38 Insertion EIF2S1 PLEK2 GPHN
nsv456331 Chr14:67266144 - 67637063 on Build GRCh38 Gain EIF2S1 TMEM229B MPP5 ARG2 LOC105370541 HMGB1P34 MIR5694 PLEK2 GPHN ATP6V1D PIGH PLEKHH1

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