Product Details

Assay Reference Genome
Location

Chr.10:53823183 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 4959 NP_001136235.1
NM_001142764.1 33 4944 NP_001136236.1
NM_001142765.1 31 4731 NP_001136237.1
NM_001142766.1 32 4929 NP_001136238.1
NM_001142767.1 31 4818 NP_001136239.1
NM_001142768.1 32 4878 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 4869 NP_001136245.1
NM_033056.3 33 4938 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 4926 AAK31581.1
AY029237.1 33 4938 AAK31804.1
AY388963.1 10 1562 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 MIR548F1 LOC105378311 MBL2 PCDH15 MTRNR2L5
esv2750962 Chr10:52972795 - 55555375 on Build GRCh38 Loss MIR548F1 LOC105378311 PCDH15
esv2759753 Chr10:53597376 - 53827170 on Build GRCh38 Loss PCDH15
dgv1146n54 Chr10:53034448 - 54727838 on Build GRCh38 Loss MIR548F1 LOC105378311 PCDH15

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