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Gene Symbol
ESPN
Assay Reference Genome
Location

Chr.1:6432740 on build GRCh38
Cytoband
1p36.31
Assay ID Hs04192006_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 Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ESPN NM_031475.2 NP_113663.2
XM_005263501.2 XP_005263558.1
XM_011542231.1 XP_011540533.1
XM_011542232.1 XP_011540534.1
XM_011542237.1 XP_011540539.1
XM_011542238.2 XP_011540540.1
XM_017002433.1 XP_016857922.1
XM_017002434.1 XP_016857923.1
AL136880.1 CAB66814.1

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 MIR4252 HES2 PLEKHG5 ESPN TNFRSF25 ACOT7
dgv80n54 Chr.1:6396412 - 6512115 on Build GRCh38 Loss MIR4252 HES2 PLEKHG5 ESPN TNFRSF25
nsv482179 Chr.1:6424788 - 6460943 on Build GRCh38 Gain MIR4252 ESPN
nsv954048 Chr.1:6414241 - 6500740 on Build GRCh38 Deletion MIR4252 HES2 PLEKHG5 ESPN TNFRSF25
nsv7880 Chr.1:6417968 - 6611914 on Build GRCh38 Gain+Loss KLHL21 MIR4252 HES2 TAS1R1 PLEKHG5 ESPN TNFRSF25 NOL9 ZBTB48
dgv9n67 Chr.1:6429866 - 6464430 on Build GRCh38 Gain MIR4252 ESPN TNFRSF25
nsv545240 Chr.1:6351154 - 6512115 on Build GRCh38 Loss MIR4252 HES2 PLEKHG5 ESPN TNFRSF25 ACOT7
nsv831536 Chr.1:6429326 - 6605343 on Build GRCh38 Loss KLHL21 MIR4252 TAS1R1 PLEKHG5 ESPN TNFRSF25 NOL9 ZBTB48
esv25412 Chr.1:6416568 - 6461456 on Build GRCh38 Gain+Loss MIR4252 HES2 ESPN TNFRSF25
nsv508836 Chr.1:6406896 - 6501029 on Build GRCh38 Insertion MIR4252 HES2 PLEKHG5 ESPN TNFRSF25

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