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 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 |
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 | GBA GBAP1 |
dgv55e214 | Chr.1:155213004 - 155236188 on Build GRCh38 | Gain | GBA MTX1 GBAP1 |
nsv470741 | Chr.1:155142784 - 155260340 on Build GRCh38 | Loss | GBA KRTCAP2 MUC1 TRIM46 THBS3 FAM189B SCAMP3 MTX1 MIR92B GBAP1 |
nsv946412 | Chr.1:155234505 - 155238170 on Build GRCh38 | Duplication | GBA |
esv3578198 | Chr.1:155211057 - 155241863 on Build GRCh38 | Loss | GBA MTX1 GBAP1 |
esv28935 | Chr.1:155210698 - 155251452 on Build GRCh38 | Gain | GBA FAM189B MTX1 GBAP1 |
nsv547963 | Chr.1:155208955 - 155236376 on Build GRCh38 | Loss | GBA THBS3 MTX1 GBAP1 |
nsv1161687 | Chr.1:155210675 - 155241876 on Build GRCh38 | Deletion | GBA MTX1 GBAP1 |
nsv1011773 | Chr.1:155219357 - 155265030 on Build GRCh38 | Gain | GBA CLK2 FAM189B SCAMP3 GBAP1 |
dgv3n68 | Chr.1:155122502 - 155343618 on Build GRCh38 | Loss | KRTCAP2 EFNA1 LOC105371451 TRIM46 MTX1 FDPS ASH1L DPM3 HCN3 GBA SLC50A1 CLK2 MUC1 RUSC1 THBS3 FAM189B SCAMP3 MIR92B PKLR GBAP1 RUSC1-AS1 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |