Genomic Map
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Target Gene Details
Entrez Gene ID: | 2647 |
Gene Name: | biogenesis of lysosomal organelles complex 1 subunit 1 |
Gene Aliases: |
BLOS1, BORCS1, GCN5L1, MICoA, RT14 |
Location: |
Chr.12:55716034-55719707 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| BLOC1S1 | NM_001487.3 | 1 | 124 | NP_001478.2 |
| NR_037655.1 | 1 | 124 | ||
| AI816035.1 | 3 | 386 | ||
| AK307069.1 | 1 | 120 | ||
| BC130640.1 | 1 | 89 | ||
| BC132795.1 | 1 | 89 | ||
| D64007.1 | 1 | 121 | BAA10887.1 | |
| DA243440.1 | 1 | 122 | ||
| DA864590.1 | 1 | 124 | ||
| S82447.1 | 1 | 77 | AAB37682.1 |
Target Gene Details
Entrez Gene ID: | 100528022 |
Gene Name: | BLOC1S1-RDH5 readthrough |
Gene Aliases: |
- |
Location: |
Chr.12:55716034-55724742 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| BLOC1S1-RDH5 | NR_037658.1 | 1 | 124 | |
| AK096656.1 | 1 | 106 | ||
| AK307141.1 | 1 | 108 | ||
| BG722558.1 | 1 | 86 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv832423 | Chr.12:55687038 - 55859914 on Build GRCh38 | Gain |
 CD63
BLOC1S1-RDH5
ITGA7
BLOC1S1
DNAJC14
ORMDL2
GDF11
TMEM198B
SARNP
MMP19
RDH5
|
| nsv559004 | Chr.12:55704254 - 55777109 on Build GRCh38 | Loss |
CD63
BLOC1S1-RDH5
ITGA7
BLOC1S1
GDF11
SARNP
RDH5
|
| nsv525231 | Chr.12:55683135 - 55730548 on Build GRCh38 | Loss |
CD63
BLOC1S1-RDH5
ITGA7
BLOC1S1
METTL7B
RDH5
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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