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

Chr.3:48578997 on build GRCh38
Cytoband
3p21.31
Assay ID Hs00993351_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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:

 Overlaps Intron 62 - Exon 63
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COL7A1 NM_000094.3 NP_000085.1
XM_011533337.1 XP_011531639.1
XM_017005688.1 XP_016861177.1
XM_017005689.1 XP_016861178.1
XM_017005690.1 XP_016861179.1
XM_017005691.1 XP_016861180.1
XM_017005692.1 XP_016861181.1
AB209645.1 BAD92882.1
L02870.1 AAA75438.1

Target Gene Details

Entrez Gene ID:

 100313843

Gene Name:

 microRNA 711

Gene Aliases:

 hsa-mir-711

Location:

 Chr.3:48578902-48578977 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MIR711 NR_031756.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv954484 Chr.3:48533268 - 48609567 on Build GRCh38 Deletion SNORA94 PFKFB4 MIR711 UCN2 MIR6823 UQCRC1 COL7A1
nsv1004383 Chr.3:48506361 - 48612339 on Build GRCh38 Loss SNORA94 PFKFB4 MIR711 UCN2 MIR6823 UQCRC1 COL7A1
nsv3811 Chr.3:48561747 - 48606376 on Build GRCh38 Deletion SNORA94 PFKFB4 MIR711 UCN2 UQCRC1 COL7A1
nsv834685 Chr.3:48527576 - 48708341 on Build GRCh38 Loss MIR4793 CELSR3 CELSR3-AS1 IP6K2 SLC26A6 SNORA94 TMEM89 PFKFB4 NCKIPSD MIR711 UCN2 MIR6824 MIR6823 UQCRC1 COL7A1
nsv523981 Chr.3:48478880 - 48683607 on Build GRCh38 Loss SHISA5 MIR4793 CELSR3 CELSR3-AS1 SLC26A6 SNORA94 TMEM89 PFKFB4 NCKIPSD MIR711 UCN2 MIR6824 MIR6823 UQCRC1 COL7A1
nsv818138 Chr.3:48573492 - 48694054 on Build GRCh38 Gain CELSR3-AS1 IP6K2 SLC26A6 SNORA94 TMEM89 MIR4793 NCKIPSD CELSR3 MIR711 MIR6824 UQCRC1 COL7A1

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More Information


Additional Information:

For this assay, SNP(s) [rs114580573] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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