Product Details

Assay Reference Genome
Location

Chr.10:53822702 on build GRCh38
Cytoband
10q21.1
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
65217
Gene Symbol
PCDH15
Gene Name
protocadherin related 15
Gene Aliases
CDHR15, DFNB23, USH1F
Location
Chr.10:53802771-55629182 on build GRCh38
Assay Gene Location
Within Exon 42
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PCDH15 NM_001142763.1 34 5440 NP_001136235.1
NM_001142764.1 33 5425 NP_001136236.1
NM_001142765.1 31 5212 NP_001136237.1
NM_001142766.1 32 5410 NP_001136238.1
NM_001142767.1 31 5299 NP_001136239.1
NM_001142768.1 32 5359 NP_001136240.1
NM_001142769.1 NP_001136241.1
NM_001142770.1 NP_001136242.1
NM_001142771.1 NP_001136243.1
NM_001142772.1 NP_001136244.1
NM_001142773.1 31 5350 NP_001136245.1
NM_033056.3 33 5419 NP_149045.3
XM_017016571.1 XP_016872060.1
XM_017016572.1 XP_016872061.1
XM_017016573.1 XP_016872062.1
AK126923.1
AY029205.1 33 5407 AAK31581.1
AY029237.1 33 5419 AAK31804.1
AY388963.1 10 2043 AAR26468.1
EU718480.1
EU718481.1
EU718482.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1041917 Chr10:52741572 - 55682853 on Build GRCh38 Loss PCDH15 MTRNR2L5 LOC105378311 MIR548F1 MBL2
esv2750962 Chr10:52972795 - 55555375 on Build GRCh38 Loss PCDH15 LOC105378311 MIR548F1
esv2759753 Chr10:53597376 - 53827170 on Build GRCh38 Loss PCDH15
dgv1146n54 Chr10:53034448 - 54727838 on Build GRCh38 Loss PCDH15 LOC105378311 MIR548F1

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