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 9 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| GBA | NM_000157.3 | NP_000148.2 | ||
| NM_001005741.2 | NP_001005741.1 | |||
| NM_001005742.2 | NP_001005742.1 | |||
| NM_001171811.1 | NP_001165282.1 | |||
| NM_001171812.1 | NP_001165283.1 | |||
| AK291911.1 | ||||
| AK298900.1 | ||||
| AK300186.1 | ||||
| AK300829.1 | ||||
| AK300876.1 | ||||
| AK301374.1 | ||||
| AK302000.1 | ||||
| AK312502.1 | ||||
| BC003356.1 | AAH03356.1 | |||
| BX648487.1 | ||||
| D13286.1 | BAA02545.1 | |||
| K02920.1 | AAA35877.1 | |||
| KJ690771.1 | ||||
| KJ690772.1 | ||||
| KJ690773.1 | ||||
| M16328.1 | AAA35873.1 | |||
| M19285.1 | AAA35880.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv952213 | Chr.1:155227610 - 155238909 on Build GRCh38 | Deletion |
 GBA
|
| esv2421617 | Chr.1:155216160 - 155236376 on Build GRCh38 | Duplication |
GBAP1
GBA
|
| esv3587619 | Chr.1:155213004 - 155236188 on Build GRCh38 | Loss |
GBAP1
MTX1
GBA
|
| nsv470741 | Chr.1:155142784 - 155260340 on Build GRCh38 | Loss |
SCAMP3
GBAP1
THBS3
KRTCAP2
MTX1
GBA
FAM189B
MIR92B
MUC1
TRIM46
|
| nsv946412 | Chr.1:155234505 - 155238170 on Build GRCh38 | Duplication |
GBA
|
| nsv547963 | Chr.1:155208955 - 155236376 on Build GRCh38 | Loss |
GBAP1
THBS3
MTX1
GBA
|
| esv28935 | Chr.1:155210698 - 155251452 on Build GRCh38 | Gain |
GBAP1
MTX1
GBA
FAM189B
|
| dgv107e212 | Chr.1:155211057 - 155242184 on Build GRCh38 | Gain |
GBAP1
MTX1
GBA
|
| nsv1161687 | Chr.1:155210675 - 155241876 on Build GRCh38 | Deletion |
GBAP1
MTX1
GBA
|
| nsv1008748 | Chr.1:155219357 - 155260819 on Build GRCh38 | Loss |
SCAMP3
GBAP1
GBA
FAM189B
|
| esv2758971 | Chr.1:155122502 - 155345016 on Build GRCh38 | Gain |
FDPS
RUSC1-AS1
CLK2
KRTCAP2
FAM189B
MIR92B
MUC1
ASH1L
LOC105371451
SCAMP3
HCN3
EFNA1
GBAP1
THBS3
SLC50A1
MTX1
GBA
DPM3
PKLR
RUSC1
TRIM46
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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