Assay Details
Target Gene Details
Entrez Gene ID: | 94103 |
Gene Name: | ORMDL sphingolipid biosynthesis regulator 3 |
Gene Aliases: |
- |
Location: |
Chr.17:39921041-39927804 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ORMDL3 | NM_001320801.1 | 6 | 2498 | NP_001307730.1 |
NM_001320802.1 | 4 | 1336 | NP_001307731.1 | |
NM_001320803.1 | 4 | 1050 | NP_001307732.1 | |
NM_139280.3 | 4 | 1341 | NP_644809.1 | |
XM_017025345.1 | 4 | 1194 | XP_016880834.1 | |
XM_017025346.1 | 4 | 1107 | XP_016880835.1 | |
XM_017025347.1 | 4 | 1287 | XP_016880836.1 | |
XM_017025348.1 | 4 | 1033 | XP_016880837.1 | |
AF373101.1 | 4 | 1077 | AAN76521.1 | |
AK074811.1 | 4 | 1138 | BAC11223.1 | |
AK075212.1 | 4 | 1093 | BAC11476.1 | |
AX775843.1 | 4 | 1095 | CAE11621.1 | |
BC017087.1 | 4 | 1107 | AAH17087.1 | |
BC071833.1 | 4 | 1086 | AAH71833.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3573064 | Chr.17:39896348 - 40029806 on Build GRCh38 | Gain | ORMDL3 GSDMA MIR6884 LRRC3C PSMD3 CSF3 GSDMB MED24 SNORD124 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |