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
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] |