Product Details

Assay Reference Genome
Location

Chr.1:155239803 on build GRCh38
Cytoband
1q22
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
2629
Gene Symbol
GBA
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 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

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv470741 Chr1:155142784 - 155260340 on Build GRCh38 Loss KRTCAP2 GBA TRIM46 MUC1 GBAP1 MTX1 THBS3 SCAMP3 MIR92B FAM189B
esv3578198 Chr1:155211057 - 155241863 on Build GRCh38 Loss GBA GBAP1 MTX1
esv28935 Chr1:155210698 - 155251452 on Build GRCh38 Gain GBA GBAP1 MTX1 FAM189B
nsv1161687 Chr1:155210675 - 155241876 on Build GRCh38 Deletion GBA GBAP1 MTX1
nsv8480 Chr1:155236544 - 155244745 on Build GRCh38 Gain GBA
nsv1011773 Chr1:155219357 - 155265030 on Build GRCh38 Gain GBA GBAP1 CLK2 SCAMP3 FAM189B
dgv3n68 Chr1:155122502 - 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

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