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Gene Symbol
GPHN
Assay Reference Genome
Location

Chr.14:67392783 on build GRCh38
Cytoband
14q23.3
Assay ID Hs00804213_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 10243

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 Transcript Location Protein ID
GPHN XM_017020925.1 XP_016876414.1

Target Gene Details

Entrez Gene ID:

 26499

Gene Name:

 pleckstrin 2

Gene Aliases:

 -

Location:

 Chr.14:67386979-67412200 on Build GRCh38

Assay Gene Location:

 Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PLEK2 NM_016445.2 5 689 NP_057529.1
XM_011536644.2 5 663 XP_011534946.1
AF228603.1 5 600 AAF34791.1
BC001226.1 5 633 AAH01226.1
BC008056.2 5 543 AAH08056.2

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2751285 Chr.14:66898030 - 67420064 on Build GRCh38 Gain FAM71D GPHN EIF2S1 MPP5 PLEK2 LOC105370541 ATP6V1D
nsv509539 Chr.14:67383566 - 67405348 on Build GRCh38 Insertion GPHN EIF2S1 PLEK2
nsv456331 Chr.14:67266144 - 67637063 on Build GRCh38 Gain PLEKHH1 GPHN ARG2 HMGB1P34 EIF2S1 TMEM229B MPP5 PIGH MIR5694 PLEK2 LOC105370541 ATP6V1D

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