Product Details

Assay Reference Genome
Location

Chr.10:53821514 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 6628 NP_001136235.1
NM_001142764.1 33 6613 NP_001136236.1
NM_001142765.1 31 6400 NP_001136237.1
NM_001142766.1 32 6598 NP_001136238.1
NM_001142767.1 31 6487 NP_001136239.1
NM_001142768.1 32 6547 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 6538 NP_001136245.1
NM_033056.3 33 6607 NP_149045.3
XM_017016571.1 XP_016872060.1
XM_017016572.1 XP_016872061.1
XM_017016573.1 XP_016872062.1
AK126923.1 22 3137
AW005431.1 1 415
AY029205.1 33 6595 AAK31581.1
AY029237.1 33 6607 AAK31804.1
AY388963.1 10 3231 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 MBL2 LOC105378311 MTRNR2L5 PCDH15
esv2750962 Chr10:52972795 - 55555375 on Build GRCh38 Loss MIR548F1 LOC105378311 PCDH15
dgv861n100 Chr10:53792127 - 53821891 on Build GRCh38 Loss 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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