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AS locus structure map

HIX0008250: Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).
Chromosome: 9 Position: 106856541..106903700 (47.2Kbp) Strand: + Number of RASVs: 6
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
HIX0008250 04-0000354 (mouse_mrna)
HIX0008250 05-0001248 (rat_rna)
HIX0008250 09-0000327 (chimpanzee_rna)
HIX0008250 15-0000065 (macaque_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000003959 SMC2 605576 teratocarcinoma Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).
HIT000425396 SMC2 605576 testis Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).
HIT000068366 SMC2 605576 teratocarcinoma Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).
HIT000259485 SMC2 605576 Pooled, 40 cell lines Similar to Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).
HIT000332231 SMC2 605576 Similar to Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).
HIT000502593 SMC2 605576 Brain, cerebellum, PCR rescued clones Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000264570 SMC2 605576 Brain, glioblastoma Similar to Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).
HIT000390175 SMC2 605576 Brain, cerebellum, PCR rescued clones Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).
HIT000028103 SMC2 605576 lymph node adult Similar to Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog).

RefSeq
ID Definition
NM_006444 Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 3, mRNA.
NM_001042550 Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 1, mRNA.
NM_001042551 Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.

Ensembl
ID Definition
ENST00000286398 Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E)(hCAP-E)(XCAP-E homolog) [Source:UniProtKB/Swiss-Prot;Acc:O95347]
ENST00000374787 Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E)(hCAP-E)(XCAP-E homolog) [Source:UniProtKB/Swiss-Prot;Acc:O95347]
ENST00000374793 Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E)(hCAP-E)(XCAP-E homolog) [Source:UniProtKB/Swiss-Prot;Acc:O95347]
ENST00000303219 Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E)(hCAP-E)(XCAP-E homolog) [Source:UniProtKB/Swiss-Prot;Acc:O95347]
ENST00000440179 Structural maintenance of chromosomes protein 2 (Chromosome-associated protein E)(hCAP-E)(XCAP-E homolog) [Source:UniProtKB/Swiss-Prot;Acc:O95347]
 
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