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 Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| GBA | NM_001005741.2 | 1 | 257 | NP_001005741.1 |
| NM_001005742.2 | 1 | 257 | NP_001005742.1 | |
| NM_001171811.1 | 1 | 257 | NP_001165282.1 | |
| AK291911.1 | 1 | 236 | ||
| AK300829.1 | 1 | 94 | ||
| AK300876.1 | 1 | 257 | ||
| AK311242.1 | ||||
| AK312502.1 | 1 | 54 | ||
| AL547558.3 | 1 | 31 | ||
| AU122729.1 | ||||
| AU131071.1 | 1 | 85 | ||
| AU141794.1 | 1 | 92 | ||
| BI458641.1 | 1 | 198 | ||
| BX382279.2 | ||||
| BX477204.1 | 1 | 57 | ||
| BX648487.1 | 1 | 66 |
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 |
 KRTCAP2
TRIM46
MIR92B
FAM189B
MUC1
THBS3
GBA
SCAMP3
MTX1
GBAP1
|
| esv28935 | Chr.1:155210698 - 155251452 on Build GRCh38 | Gain |
FAM189B
GBA
MTX1
GBAP1
|
| nsv8480 | Chr.1:155236544 - 155244745 on Build GRCh38 | Gain |
GBA
|
| nsv1011773 | Chr.1:155219357 - 155265030 on Build GRCh38 | Gain |
CLK2
FAM189B
GBA
SCAMP3
GBAP1
|
| dgv3n68 | Chr.1:155122502 - 155343618 on Build GRCh38 | Loss |
KRTCAP2
RUSC1
FDPS
EFNA1
TRIM46
CLK2
MIR92B
HCN3
THBS3
GBA
MTX1
PKLR
LOC105371451
RUSC1-AS1
FAM189B
SLC50A1
MUC1
SCAMP3
ASH1L
DPM3
GBAP1
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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