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See other ATP8B1 CNV Assays ›
Gene Symbol
ATP8B1
Assay Reference Genome
Location

Chr.18:57646884 on build GRCh38
Cytoband
18q21.31
Assay ID Hs02691183_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 5205

Gene Name:

 ATPase phospholipid transporting 8B1

Gene Aliases:

 ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1

Location:

 Chr.18:57646426-57803828 on Build GRCh38

Assay Gene Location:

 Within Exon 29
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ATP8B1 NM_005603.4 28 5480 NP_005594.1
XM_006722481.3 28 6216 XP_006722544.1
XM_011526022.2 28 5404 XP_011524324.1
XM_011526023.2 27 6102 XP_011524325.1
AA234929.1
AI625486.1 1 438
AI914078.1
CB052296.1 1 498

Target Gene Details

Entrez Gene ID:

 100505549

Gene Name:

 uncharacterized LOC100505549

Gene Aliases:

 -

Location:

 Chr.18:57630302-57669276 on Build GRCh38

Assay Gene Location:

 Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
LOC100505549 NM_001242804.1 NP_001229733.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv833663 Chr.18:57549030 - 57718589 on Build GRCh38 Gain LOC100505549 NARS ATP8B1 FECH
nsv2319 Chr.18:57638082 - 57658017 on Build GRCh38 Insertion LOC100505549 ATP8B1
nsv577032 Chr.18:57517516 - 57756707 on Build GRCh38 Gain LOC100505549 NARS ATP8B1 FECH
esv2751777 Chr.18:57515803 - 57805084 on Build GRCh38 Gain LOC100505549 NARS ATP8B1 FECH

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