Genomic Map
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Target Gene Details
Entrez Gene ID: | 2629 |
Gene Name: | glucosylceramidase beta |
Gene Aliases: |
GBA1, GCB, GLUC |
Location: |
Chr.1:155234448-155244862 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| GBA | NM_001005741.2 | NP_001005741.1 | ||
| NM_001005742.2 | NP_001005742.1 | |||
| NM_001171811.1 | NP_001165282.1 | |||
| AK291911.1 | ||||
| AK300829.1 | ||||
| AK300876.1 | ||||
| AK311242.1 | ||||
| AK312502.1 | ||||
| AL547558.3 | ||||
| AU122729.1 | ||||
| AU131071.1 | ||||
| AU141794.1 | ||||
| BI458641.1 | ||||
| BX382279.2 | ||||
| BX477204.1 | ||||
| BX648487.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv470741 | Chr.1:155142784 - 155260340 on Build GRCh38 | Loss |
 FAM189B
SCAMP3
THBS3
KRTCAP2
MUC1
GBA
MIR92B
MTX1
TRIM46
GBAP1
|
| esv3578198 | Chr.1:155211057 - 155241863 on Build GRCh38 | Loss |
GBA
MTX1
GBAP1
|
| esv28935 | Chr.1:155210698 - 155251452 on Build GRCh38 | Gain |
FAM189B
GBA
MTX1
GBAP1
|
| nsv1161687 | Chr.1:155210675 - 155241876 on Build GRCh38 | Deletion |
GBA
MTX1
GBAP1
|
| nsv8480 | Chr.1:155236544 - 155244745 on Build GRCh38 | Gain |
GBA
|
| nsv1011773 | Chr.1:155219357 - 155265030 on Build GRCh38 | Gain |
FAM189B
SCAMP3
CLK2
GBA
GBAP1
|
| dgv3n68 | Chr.1:155122502 - 155343618 on Build GRCh38 | Loss |
FAM189B
CLK2
THBS3
FDPS
MUC1
GBA
RUSC1
DPM3
MTX1
TRIM46
HCN3
SLC50A1
GBAP1
LOC105371451
SCAMP3
EFNA1
KRTCAP2
RUSC1-AS1
PKLR
MIR92B
ASH1L
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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