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AS locus structure map

HIX0022043: Kelch-like protein 2 (Actin-binding protein Mayven).
Chromosome: 4 Position: 166128770..166244308 (115.5Kbp) 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
HIX0022043 08-0000689 (mouse_mrna)
HIX0022043 16-0000524 (rat_rna)
HIX0022043 04-0000575 (chimpanzee_rna)
HIX0022043 05-0000133 (macaque_rna)
HIX0022043 15-0000402 (dog_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000051714 KLHL2 605774 Brain, hypothalamus Kelch-like protein 2 (Actin-binding protein Mayven).
HIT000056423 KLHL2 605774 human endometrium adult BTB/POZ domain containing protein.
HIT000488727 KLHL2 605774 alzheimer cortex Kelch-like protein, gigaxonin family protein.

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000039585 KLHL2 605774 Brain, hypothalamus Kelch-like protein 2 (Actin-binding protein Mayven).
HIT000064841 KLHL2 605774 Kelch-like protein 2 (Actin-binding protein Mayven).
HIT000434238 KLHL2 605774 cerebellum Kelch-like protein 2 (Actin-binding protein Mayven).

RefSeq
ID Definition
NM_007246 Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 1, mRNA.
NM_001161521 Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 2, mRNA.
NM_001161522 Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 3, mRNA.

Ensembl
ID Definition
ENST00000226725 Kelch-like protein 2 (Actin-binding protein Mayven) [Source:UniProtKB/Swiss-Prot;Acc:O95198]
ENST00000421009 Kelch-like protein 2 (Actin-binding protein Mayven) [Source:UniProtKB/Swiss-Prot;Acc:O95198]
 
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