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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

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Gene: GM2A ENSG00000196743

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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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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,

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Summary

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