Transcript: ENST00000511446.2 GBA3-002

Description

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

Gene Synonyms

CBG, CBGL1, GLUC, KLRP, KLrP

Location

Chromosome 4: 22,715,712-22,821,150 forward strand.

About this transcript

This transcript has 5 exons, is associated with 45269 variant alleles and maps to 324 oligo probes.

Gene

This transcript is a product of gene ENSG00000249948.2 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	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	-	-

Summary

Statistics

Exons: 5, Coding exons: 3, Transcript length: 2,018 bps, Translation length: 298 residues

Version

ENST00000511446.2

Type

Polymorphic pseudogene

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Stop codons

This transcript has a variant, rs358231, that causes a stop codon to be lost in at least 10% of HapMap or 1000 Genome population(s) CSHL-HAPMAP:HapMap-CEU, CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HAPMAP-GIH, CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HapMap-HCB, CSHL-HAPMAP:HAPMAP-CHB, CSHL-HAPMAP:HAPMAP-LWK, ESP6500:European_American, CSHL-HAPMAP:HAPMAP-ASW, CSHL-HAPMAP:HAPMAP-MKK, CSHL-HAPMAP:HAPMAP-CHD, CSHL-HAPMAP:HAPMAP-TSI, ESP6500:African_American, CSHL-HAPMAP:HAPMAP-MEX.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000360619 (version 3)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

EMBL-EBI User Survey 2024

Favourite species

All species

Recent locations

Transcript: ENST00000511446.2 GBA3-002

Summary