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 Intron 23 | 
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID | 
|---|---|---|---|---|
| ATP8B1 | NM_005603.4 | NP_005594.1 | ||
| XM_006722481.3 | XP_006722544.1 | |||
| XM_011526022.2 | XP_011524324.1 | |||
| XM_011526023.2 | XP_011524325.1 | |||
| AF038007.1 | AAC63461.1 | |||
| BC003534.1 | AAH03534.1 | 
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 |  FECH  NARS  LOC100505549  ATP8B1 | 
| nsv2319 | Chr.18:57638082 - 57658017 on Build GRCh38 | Insertion |  LOC100505549  ATP8B1 | 
| nsv577032 | Chr.18:57517516 - 57756707 on Build GRCh38 | Gain |  FECH  NARS  LOC100505549  ATP8B1 | 
| esv2751777 | Chr.18:57515803 - 57805084 on Build GRCh38 | Gain |  FECH  NARS  LOC100505549  ATP8B1 | 
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| Set Membership: |  Intragenic  Intronic  Non-exonic  DGV Variation | 
Panther Classification:
Gene Ontology Categories:
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