Loading…

Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

Configure this page

Share this page

Bookmark this page

.

Gene: GM2A ENSG00000196743

.

Description

GM2 ganglioside activator [Source:HGNC Symbol;Acc:4367]

Gene Synonyms

GM2-AP, SAP-3

Location

Chromosome 5: 150,591,711-150,650,001 forward strand.

GRCh37:CM000667.1

About this gene

This gene has 3 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000357164.3	GM2A-001	3896	193aa	ENSP00000349687.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4313	P17900	NM_001167607.1	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000523004.1	GM2A-002	643	104aa	ENSP00000430541.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000523466.1	GM2A-004	553	146aa	ENSP00000429100.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E5RJD0	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

.

Summary

.

.