Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
- GO: Anatomical entity
Phenotypes
Genetic Variation
- Variant table
- Variant image
- Structural variants
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: BBS12 ENSPTRG00000016420

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Description

Bardet-Biedl syndrome 12 [Source:UniProtKB Gene Name;Acc:H2QQ46]

Location

Chromosome 4: 125,648,681-125,650,813 forward strand.

Pan_tro_3.0:CM000318.3

About this gene

This gene has 1 transcript (splice variant), 166 orthologues and 28 paralogues.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	Flags
ENSPTRT00000030529.4	BBS12-201	2133	710aa	ENSPTRP00000028195.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	H2QQ46	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, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,

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Summary

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