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See other COL7A1 CNV Assays ›
Gene Symbol
COL7A1
Assay Reference Genome
Location

Chr.3:48564871 on build GRCh38
Cytoband
3p21.31
Assay ID Hs01695005_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,505.00
Your Price
Online offer:
4505.0
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Assay Details

Target Gene Details

Entrez Gene ID:

 1294

Gene Name:

 collagen type VII alpha 1

Gene Aliases:

 EBD1, EBDCT, EBR1, NDNC8

Location:

 Chr.3:48564073-48595302 on Build GRCh38

Assay Gene Location:

 Within Exon 118
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COL7A1 NM_000094.3 117 8731 NP_000085.1
XM_011533337.1 118 8766 XP_011531639.1
XM_017005688.1 117 8706 XP_016861177.1
AB209645.1 81 5243 BAD92882.1
L02870.1 117 8843 AAA75438.1
L06862.1 24 1548 AAA89196.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1004383 Chr.3:48506361 - 48612339 on Build GRCh38 Loss MIR711 UQCRC1 UCN2 PFKFB4 COL7A1 MIR6823 SNORA94
nsv954484 Chr.3:48533268 - 48609567 on Build GRCh38 Deletion MIR711 UQCRC1 UCN2 PFKFB4 COL7A1 MIR6823 SNORA94
nsv834685 Chr.3:48527576 - 48708341 on Build GRCh38 Loss MIR6824 UCN2 COL7A1 SNORA94 SLC26A6 TMEM89 MIR711 UQCRC1 CELSR3-AS1 IP6K2 PFKFB4 NCKIPSD MIR6823 MIR4793 CELSR3
nsv3811 Chr.3:48561747 - 48606376 on Build GRCh38 Deletion MIR711 UQCRC1 UCN2 PFKFB4 COL7A1 SNORA94
nsv523981 Chr.3:48478880 - 48683607 on Build GRCh38 Loss MIR6824 UCN2 SHISA5 COL7A1 SNORA94 SLC26A6 TMEM89 MIR711 UQCRC1 CELSR3-AS1 PFKFB4 NCKIPSD MIR6823 MIR4793 CELSR3

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