Genomic Map
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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 Intron 114 |
| 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 | |||
| AB209645.1 | BAD92882.1 | |||
| L02870.1 | AAA75438.1 | |||
| L06862.1 | AAA89196.1 |
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 |
 COL7A1
PFKFB4
MIR6823
MIR711
UCN2
SNORA94
UQCRC1
|
| nsv1004383 | Chr.3:48506361 - 48612339 on Build GRCh38 | Loss |
COL7A1
PFKFB4
MIR6823
MIR711
UCN2
SNORA94
UQCRC1
|
| nsv3811 | Chr.3:48561747 - 48606376 on Build GRCh38 | Deletion |
COL7A1
PFKFB4
MIR711
UCN2
SNORA94
UQCRC1
|
| nsv834685 | Chr.3:48527576 - 48708341 on Build GRCh38 | Loss |
CELSR3-AS1
COL7A1
PFKFB4
MIR6823
MIR711
UCN2
MIR4793
TMEM89
NCKIPSD
MIR6824
CELSR3
SNORA94
IP6K2
SLC26A6
UQCRC1
|
| nsv523981 | Chr.3:48478880 - 48683607 on Build GRCh38 | Loss |
CELSR3-AS1
COL7A1
PFKFB4
MIR6823
MIR711
UCN2
MIR4793
TMEM89
NCKIPSD
SHISA5
MIR6824
CELSR3
SNORA94
SLC26A6
UQCRC1
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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