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AS locus structure map

HIX0028835: Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154) (Phosphoinositide 3-Kinase-C2-beta) (PtdIns-3-kinase C2 beta) (PI3K-C2beta) (C2-PI3K).
Chromosome: 1 Position: 204391758..204464522 (72.8Kbp) Strand: - Number of RASVs: 2
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
HIX0028835 01-0001085 (mouse_flcdna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000390929 PIK3C2B 602838 Pooled, cerebellum, kidney, placenta, Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154) (Phosphoinositide 3-Kinase-C2-beta) (PtdIns-3-kinase C2 beta) (PI3K-C2beta) (C2-PI3K).
HIT000502762 PIK3C2B 602838 Pooled, cerebellum, kidney, placenta, Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154) (Phosphoinositide 3-Kinase-C2-beta) (PtdIns-3-kinase C2 beta) (PI3K-C2beta) (C2-PI3K).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000500654 PIK3C2B 602838 Testicle, PCR rescued clones Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154) (Phosphoinositide 3-Kinase-C2-beta) (PtdIns-3-kinase C2 beta) (PI3K-C2beta) (C2-PI3K).

RefSeq
ID Definition
NM_002646 Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.

Ensembl
ID Definition
ENST00000367187 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154)(Phosphoinositide 3-Kinase-C2-beta)(PtdIns-3- kinase C2 beta)(PI3K-C2beta)(C2-PI3K) [Source:UniProtKB/Swiss-Prot;Acc:O00750]
ENST00000367184 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154)(Phosphoinositide 3-Kinase-C2-beta)(PtdIns-3- kinase C2 beta)(PI3K-C2beta)(C2-PI3K) [Source:UniProtKB/Swiss-Prot;Acc:O00750]
ENST00000391949 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154)(Phosphoinositide 3-Kinase-C2-beta)(PtdIns-3- kinase C2 beta)(PI3K-C2beta)(C2-PI3K) [Source:UniProtKB/Swiss-Prot;Acc:O00750]
ENST00000415899 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154)(Phosphoinositide 3-Kinase-C2-beta)(PtdIns-3- kinase C2 beta)(PI3K-C2beta)(C2-PI3K) [Source:UniProtKB/Swiss-Prot;Acc:O00750]
ENST00000424712 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154)(Phosphoinositide 3-Kinase-C2-beta)(PtdIns-3- kinase C2 beta)(PI3K-C2beta)(C2-PI3K) [Source:UniProtKB/Swiss-Prot;Acc:O00750]
ENST00000429009 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154)(Phosphoinositide 3-Kinase-C2-beta)(PtdIns-3- kinase C2 beta)(PI3K-C2beta)(C2-PI3K) [Source:UniProtKB/Swiss-Prot;Acc:O00750]
ENST00000438854 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing beta polypeptide (EC 2.7.1.154)(Phosphoinositide 3-Kinase-C2-beta)(PtdIns-3- kinase C2 beta)(PI3K-C2beta)(C2-PI3K) [Source:UniProtKB/Swiss-Prot;Acc:O00750]
 
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