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See other ESPN CNV Assays ›
Gene Symbol
ESPN
Assay Reference Genome
Location

Chr.1:6460153 on build GRCh38
Cytoband
1p36.31
Assay ID Hs02078812_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 83715

Gene Name:

 espin

Gene Aliases:

 DFNB36, LP2654

Location:

 Chr.1:6424776-6461367 on Build GRCh38

Assay Gene Location:

 Within Exon 18
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ESPN NM_031475.2 13 2740 NP_113663.2
XM_005263501.2 15 2689 XP_005263558.1
XM_017002433.1 XP_016857922.1
AF134401.1 AAD24480.1
AL136880.1 13 2740 CAB66814.1
AY203958.1 8 1094 AAP34481.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1009548 Chr.1:6342976 - 6517352 on Build GRCh38 Loss ACOT7 HES2 PLEKHG5 MIR4252 TNFRSF25 ESPN
dgv80n54 Chr.1:6396412 - 6512115 on Build GRCh38 Loss HES2 PLEKHG5 MIR4252 TNFRSF25 ESPN
nsv482179 Chr.1:6424788 - 6460943 on Build GRCh38 Gain MIR4252 ESPN
nsv954048 Chr.1:6414241 - 6500740 on Build GRCh38 Deletion HES2 PLEKHG5 MIR4252 TNFRSF25 ESPN
nsv470690 Chr.1:6434339 - 6512115 on Build GRCh38 Gain PLEKHG5 TNFRSF25 ESPN
nsv7880 Chr.1:6417968 - 6611914 on Build GRCh38 Gain+Loss ZBTB48 HES2 NOL9 PLEKHG5 MIR4252 KLHL21 TAS1R1 TNFRSF25 ESPN
nsv545264 Chr.1:6457119 - 6492439 on Build GRCh38 Loss PLEKHG5 TNFRSF25 ESPN
dgv9n67 Chr.1:6429866 - 6464430 on Build GRCh38 Gain MIR4252 TNFRSF25 ESPN
nsv545240 Chr.1:6351154 - 6512115 on Build GRCh38 Loss ACOT7 HES2 PLEKHG5 MIR4252 TNFRSF25 ESPN
nsv831536 Chr.1:6429326 - 6605343 on Build GRCh38 Loss ZBTB48 NOL9 PLEKHG5 MIR4252 KLHL21 TAS1R1 TNFRSF25 ESPN
esv25412 Chr.1:6416568 - 6461456 on Build GRCh38 Gain+Loss HES2 MIR4252 TNFRSF25 ESPN
nsv508836 Chr.1:6406896 - 6501029 on Build GRCh38 Insertion HES2 PLEKHG5 MIR4252 TNFRSF25 ESPN

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