Assay Details
Target Gene Details
Entrez Gene ID: | 5018 |
Gene Name: | OXA1L, mitochondrial inner membrane protein |
Gene Aliases: |
OXA1 |
Location: |
Chr.14:22766522-22771789 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 2 - Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OXA1L | NM_005015.3 | NP_005006.3 | ||
AK294849.1 | ||||
AK298249.1 | ||||
BC001669.2 | AAH01669.2 | |||
BC112331.1 | AAI12332.1 | |||
BP303816.1 | ||||
BP330984.1 | ||||
BX248001.1 | CAD62333.1 | |||
BX248295.1 | CAD62623.1 | |||
X80695.1 | CAA56712.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv127n21 | Chr.14:22690985 - 22790490 on Build GRCh38 | Gain | OXA1L SLC7A7 |
dgv1836n100 | Chr.14:22676576 - 22803700 on Build GRCh38 | Gain | OXA1L SLC7A7 |
nsv563998 | Chr.14:22414183 - 22879743 on Build GRCh38 | Gain | LOC105370399 ABHD4 DAD1 MMP14 TRDV3 TRAJ17 TRDV2 MRPL52 LRP10 SLC7A7 TRAJ60 TRAC OXA1L |
esv3633763 | Chr.14:22686795 - 22843098 on Build GRCh38 | Gain | OXA1L MMP14 MRPL52 SLC7A7 |
nsv564039 | Chr.14:22629313 - 22794929 on Build GRCh38 | Gain | OXA1L SLC7A7 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |