Transcript: ENST00000508166.1 GBA3-001

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.

About this transcript

This transcript has 5 exons, is associated with 54397 variant alleles and maps to 371 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	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: 5, Transcript length: 2,164 bps, Translation length: 469 residues

Version

ENST00000508166.1

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-YRI, CSHL-HAPMAP:HAPMAP-CHD, ESP6500:African_American, CSHL-HAPMAP:HapMap-HCB, CSHL-HAPMAP:HAPMAP-LWK, CSHL-HAPMAP:HAPMAP-TSI, CSHL-HAPMAP:HAPMAP-MKK, CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HAPMAP-ASW, ESP6500:European_American, CSHL-HAPMAP:HapMap-CEU, CSHL-HAPMAP:HAPMAP-GIH, CSHL-HAPMAP:HAPMAP-MEX, CSHL-HAPMAP:HAPMAP-CHB.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000360618 (version 2)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000508166.1 GBA3-001

Summary