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AS locus structure map

HIX0001647: Presenilin-2 (EC 3.4.23.-) (PS-2) (STM-2) (E5-1) (AD3LP) (AD5) [Contains: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit].
Chromosome: 1 Position: 227058273..227083806 (25.5Kbp) 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
HIX0001647 01-0000164 (mouse_mrna)
HIX0001647 01-0001501 (chimpanzee_rna)
HIX0001647 01-0001646 (macaque_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000193896 PSEN2 606889 Similar to Presenilin 2-like protein (Fragment).
HIT000273590 PSEN2 606889 B cells (Ramos cell line) Similar to Presenilin 2-like protein (Fragment).
HIT000495767 PSEN2 606889 spleen Similar to Presenilin 2-like protein (Fragment).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000193897 PSEN2 606889 colon cancer cell brain and colon fetus and adult Presenilin-2 (EC 3.4.23.-) (PS-2) (STM-2) (E5-1) (AD3LP) (AD5) [Contains: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit].
HIT000425096 PSEN2 606889 testis Presenilin 2 isoform 2.

RefSeq
ID Definition
NM_000447 Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.
NM_012486 Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 2, mRNA.

Ensembl
ID Definition
ENST00000366782 Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810]
ENST00000366783 Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810]
ENST00000391872 Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810]
ENST00000422240 Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810]
ENST00000340188 Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810]
 
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