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 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP8B1 | NM_005603.4 | 23 | 3010 | NP_005594.1 |
XM_006722481.3 | 23 | 3746 | XP_006722544.1 | |
XM_011526022.2 | 23 | 2934 | XP_011524324.1 | |
XM_011526023.2 | 22 | 3632 | XP_011524325.1 | |
AF038007.1 | 22 | 2890 | AAC63461.1 | |
BC003534.1 | 12 | 1818 | 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 | LOC100505549 FECH ATP8B1 NARS |
nsv2319 | Chr.18:57638082 - 57658017 on Build GRCh38 | Insertion | LOC100505549 ATP8B1 |
nsv577032 | Chr.18:57517516 - 57756707 on Build GRCh38 | Gain | LOC100505549 FECH ATP8B1 NARS |
esv2751777 | Chr.18:57515803 - 57805084 on Build GRCh38 | Gain | LOC100505549 FECH ATP8B1 NARS |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |