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AS locus structure map

HIX0023695: Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein).
Chromosome: 1 Position: 25870071..25895377 (25.3Kbp) Strand: + Number of RASVs: 4
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
HIX0023695 04-0000823 (mouse_mrna)
HIX0023695 03-0000019 (chimpanzee_rna)
HIX0023695 01-0001887 (macaque_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000040867 LDLRAP1 605747 Brain, adult, 6 pooled whole brains Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein).
HIT000007671 LDLRAP1 605747 placenta Similar to Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein).
HIT000428716 LDLRAP1 605747 peripheral blood mononuclear cells Similar to Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein).
HIT000428719 LDLRAP1 605747 peripheral blood mononuclear cells Similar to Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000016086 LDLRAP1 605747 tongue, tumor tissue Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein).
HIT000024816 LDLRAP1 605747 uterus adult Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein).

RefSeq
ID Definition
NM_015627 Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.

Ensembl
ID Definition
ENST00000374338 Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein) [Source:UniProtKB/Swiss-Prot;Acc:Q5SW96]
 
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