Assay Details
Target Gene Details
Entrez Gene ID: | 54995 |
Gene Name: | 3-oxoacyl-ACP synthase, mitochondrial |
Gene Aliases: |
FASN2D, KASI, KS |
Location: |
Chr.3:25783661-25794534 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OXSM | NM_001145391.1 | 4 | 911 | NP_001138863.1 |
NM_017897.2 | 3 | 1160 | NP_060367.1 | |
NR_026937.1 | 4 | 706 | ||
XM_006713216.3 | 3 | 8240 | XP_006713279.1 | |
XM_006713217.3 | 4 | 7786 | XP_006713280.1 | |
XM_017006713.1 | 2 | 8413 | XP_016862202.1 | |
XM_017006714.1 | 3 | 7959 | XP_016862203.1 | |
AK000611.1 | 3 | 1152 | BAA91286.1 | |
AK225260.1 | 4 | 889 | ||
AK304821.1 | 4 | 688 | ||
BC008202.1 | 3 | 1129 | AAH08202.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3893676 | Chr.3:24984204 - 26577498 on Build GRCh38 | Loss | RARB MIR4442 NGLY1 TOP2B LOC105376997 OXSM LINC00692 |
dgv71n17 | Chr.3:25786051 - 25816479 on Build GRCh38 | Loss | NGLY1 OXSM |
esv2763742 | Chr.3:25788356 - 25868676 on Build GRCh38 | Gain | NGLY1 OXSM LINC00692 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |