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Gene Symbol
GPHN
Assay Reference Genome
Location

Chr.14:67595725 on build GRCh38
Cytoband
14q24.1
Assay ID Hs07097694_cn
Size
Availability Made To Order
Catalog # 4400291
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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:

 5283

Gene Name:

 phosphatidylinositol glycan anchor biosynthesis class H

Gene Aliases:

 GPI-H

Location:

 Chr.14:67589306-67600302 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PIGH NM_004569.3 NP_004560.1
XM_011536838.2 XP_011535140.1
XM_017021371.1 XP_016876860.1
XM_017021372.1 XP_016876861.1
AK293584.1
AK314108.1
BC004100.2 AAH04100.1
BC071849.1 AAH71849.1
BP244435.1
BT006804.1 AAP35450.1
L19783.1 AAA03545.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3892557 Chr.14:67469765 - 67613847 on Build GRCh38 Gain PIGH PLEKHH1 TMEM229B GPHN
nsv456331 Chr.14:67266144 - 67637063 on Build GRCh38 Gain ATP6V1D PIGH PLEKHH1 MPP5 PLEK2 LOC105370541 EIF2S1 MIR5694 TMEM229B GPHN HMGB1P34 ARG2

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