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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
- GO: Biological process
- GO: Molecular function
- GO: Cellular component
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: GBA3 ENSG00000249948

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Description

glucosidase, beta, acid 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:19069]

Gene Synonyms

CBG, CBGL1, GLUC, KLRP, KLrP

Location

Chromosome 4: 22,694,537-22,821,198 forward strand.

GRCh37:CM000666.1

About this gene

This gene has 5 transcripts (splice variants) and 4 paralogues.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	RefSeq	Flags
ENST00000508166.1	GBA3-001	2164	469aa	ENSP00000427458.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene		NM_020973.4	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000511446.2	GBA3-002	2018	298aa	ENSP00000423754.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene		NM_001277225.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000503442.1	GBA3-003	1232	162aa	ENSP00000422220.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene		NM_001128432.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000508264.1	GBA3-005	727	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-
ENST00000504802.1	GBA3-004	600	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-

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Summary

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