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Gene Symbol
GPHN
Assay Reference Genome
Location

Chr.14:67589388 on build GRCh38
Cytoband
14q24.1
Assay ID Hs01447073_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:

 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 Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PIGH NM_004569.3 4 1356 NP_004560.1
XM_011536838.2 5 1476 XP_011535140.1
XM_017021371.1 5 1477 XP_016876860.1
XM_017021372.1 4 1346 XP_016876861.1
AI633958.1 1 84
BC071849.1 4 1304 AAH71849.1
L19783.1 4 1319 AAA03545.1

Target Gene Details

Entrez Gene ID:

 57475

Gene Name:

 pleckstrin homology, MyTH4 and FERM domain containing H1

Gene Aliases:

 -

Location:

 Chr.14:67533155-67589766 on Build GRCh38

Assay Gene Location:

 Within Exon 29
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PLEKHH1 NM_020715.2 29 6390 NP_065766.1
XM_011537009.1 29 6566 XP_011535311.1
XM_011537015.2 22 6621 XP_011535317.1
XM_017021499.1 28 6547 XP_016876988.1
XM_017021500.1 29 6482 XP_016876989.1
XM_017021501.1 28 6463 XP_016876990.1
XM_017021502.1 22 6343 XP_016876991.1
XM_017021503.1 22 5703 XP_016876992.1
XM_017021504.1 24 5845 XP_016876993.1
AB033026.1 29 6366
AK123262.1 2 2854
AK124787.1 6 3447
BC014159.2 6 2849 AAH14159.1
BC146787.1 29 6366
BX648137.1 6 5723
BX648464.1 20 5502

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 TMEM229B GPHN PLEKHH1 PIGH
dgv138n21 Chr.14:67589167 - 67591159 on Build GRCh38 Loss GPHN PLEKHH1 PIGH
nsv456331 Chr.14:67266144 - 67637063 on Build GRCh38 Gain LOC105370541 ATP6V1D TMEM229B GPHN MIR5694 EIF2S1 PLEKHH1 PIGH ARG2 PLEK2 HMGB1P34 MPP5

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