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AS locus structure map

HIX0030010: BRCA1-associated RING domain protein 1 (BARD-1).
Chromosome: 2 Position: 215593148..215674428 (81.3Kbp) 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
HIX0030010 09-0000056 (rat_rna)
HIX0030010 02b-0000341 (chimpanzee_rna)
HIX0030010 12-0000073 (macaque_rna)
HIX0030010 37-0000124 (dog_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000389018 BARD1 601593 Brain, cerebellum, PCR rescued clones BRCA1-associated RING domain protein 1 (BARD-1).
HIT000429625 BARD1 601593 kidney, tumor tissue Similar to BRCA1-associated RING domain protein 1 (BARD-1).
HIT000496467 BARD1 601593 testis Similar to BRCA1-associated RING domain protein 1 (BARD-1).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000221303 BARD1 601593 BRCA1-associated RING domain protein 1 (BARD-1).
HIT000300557 BARD1 601593 HeLa cells Cot 25-normalized Similar to BRCA1-associated RING domain protein 1 (BARD-1).
HIT000331189 BARD1 601593 coronary artery endothelial cells Similar to BRCA1 associated RING domain 1 variant (Fragment).
HIT000389020 BARD1 601593 Brain, cerebellum, PCR rescued clones BRCA1-associated RING domain protein 1 (BARD-1).
HIT000433126 BARD1 601593 normal dermal fibroblasts (Neonatal Skin) BRCA1-associated RING domain protein 1 (BARD-1).

RefSeq
ID Definition
NM_000465 Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.

Ensembl
ID Definition
ENST00000260947 BRCA1-associated RING domain protein 1 (BARD-1)(EC 6.3.2.-) [Source:UniProtKB/Swiss-Prot;Acc:Q99728]
ENST00000421162 BRCA1-associated RING domain protein 1 (BARD-1)(EC 6.3.2.-) [Source:UniProtKB/Swiss-Prot;Acc:Q99728]
ENST00000432456 BRCA1-associated RING domain protein 1 (BARD-1)(EC 6.3.2.-) [Source:UniProtKB/Swiss-Prot;Acc:Q99728]
ENST00000449967 BRCA1-associated RING domain protein 1 (BARD-1)(EC 6.3.2.-) [Source:UniProtKB/Swiss-Prot;Acc:Q99728]
ENST00000455743 BRCA1-associated RING domain protein 1 (BARD-1)(EC 6.3.2.-) [Source:UniProtKB/Swiss-Prot;Acc:Q99728]
 
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