Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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 4 |
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 | ||||
AK301879.1 | ||||
AK302000.1 | ||||
AK311242.1 | ||||
AK312502.1 | ||||
AL547558.3 | ||||
AU122729.1 | ||||
AU131071.1 | ||||
AU140959.1 | ||||
AU141794.1 | ||||
BC003356.1 | AAH03356.1 | |||
BI458641.1 | ||||
BX382279.2 | ||||
BX648487.1 | ||||
D13286.1 | BAA02545.1 | |||
DC297079.1 | ||||
K02920.1 | AAA35877.1 | |||
KJ690771.1 | ||||
KJ690772.1 | ||||
KJ690773.1 | ||||
M16328.1 | AAA35873.1 | |||
M19285.1 | AAA35880.1 |
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 GBA TRIM46 MUC1 GBAP1 MTX1 THBS3 SCAMP3 MIR92B FAM189B |
esv3578198 | Chr.1:155211057 - 155241863 on Build GRCh38 | Loss | GBA GBAP1 MTX1 |
esv28935 | Chr.1:155210698 - 155251452 on Build GRCh38 | Gain | GBA GBAP1 MTX1 FAM189B |
nsv1161687 | Chr.1:155210675 - 155241876 on Build GRCh38 | Deletion | GBA GBAP1 MTX1 |
nsv8480 | Chr.1:155236544 - 155244745 on Build GRCh38 | Gain | GBA |
nsv1011773 | Chr.1:155219357 - 155265030 on Build GRCh38 | Gain | GBA GBAP1 CLK2 SCAMP3 FAM189B |
dgv3n68 | Chr.1:155122502 - 155343618 on Build GRCh38 | Loss | RUSC1 MUC1 PKLR DPM3 ASH1L THBS3 FDPS MIR92B FAM189B KRTCAP2 HCN3 LOC105371451 GBA EFNA1 TRIM46 SLC50A1 RUSC1-AS1 GBAP1 MTX1 CLK2 SCAMP3 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation Validated |