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AS locus structure map

HIX0005327: GM2 activator protein.
Chromosome: 5 Position: 150632613..150684506 (51.9Kbp) Strand: + Number of RASVs: 3
ORF: Full-length Truncated NMD UTR
Splice-site: GT-AG GC-AG AT-AC Other NAGNAG
AS: AS exon AS junction Polymorphism: SNP

Locus and transcript information


AS locus
Hyperlink management Corresponding other species locus
HIX0005327 11-0001678 (mouse_mrna)
HIX0005327 05-0000557 (chimpanzee_rna)
HIX0005327 06-0000042 (macaque_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000034247 GM2A 613109 Uterus, leiomyosarcoma Similar to GM2-activator protein (Fragment).
HIT000385108 cerebellum GM2 activator protein.
HIT000493491 GM2A 613109 teratocarcinoma Similar to GM2-activator protein (Fragment).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000305839 GM2A 613109 B cells (Ramos cell line) Cot 25-normalized Ganglioside GM2 activator precursor (GM2-AP) (Cerebroside sulfate activator protein) (Shingolipid activator protein 3) (SAP-3) [Contains: Ganglioside GM2 activator isoform short].
HIT000322506 GM2A 613109 fibroblast GM2 activator protein.

RefSeq
ID Definition
NM_000405 Homo sapiens GM2 ganglioside activator (GM2A), mRNA.

Ensembl
ID Definition
ENST00000357164 Ganglioside GM2 activator Precursor (GM2- AP)(Cerebroside sulfate activator protein)(Shingolipid activator protein 3)(SAP-3) [Contains Ganglioside GM2 activator isoform short] [Source:UniProtKB/Swiss- Prot;Acc:P17900]
 
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