Assay Details
Target Gene Details
Entrez Gene ID: | 57493 |
Gene Name: | heart development protein with EGF like domains 1 |
Gene Aliases: |
HEG, MST112, MSTP112 |
Location: |
Chr.3:124965710-125055958 on Build GRCh38 |
Assay Gene Location: | Within Intron 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HEG1 | NM_020733.1 | NP_065784.1 | ||
XM_005247666.1 | XP_005247723.1 | |||
AB033063.2 | BAA86551.2 | |||
AK074987.1 | BAC11336.1 | |||
BC004539.2 | AAH04539.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160974 | Chr.3:124577493 - 125300995 on Build GRCh38 | Duplication | KALRN SLC12A8 ITGB5 HEG1 MIR5092 MUC13 UMPS MIR544B ZNF148 |
nsv1001677 | Chr.3:124015843 - 125108694 on Build GRCh38 | Loss | KALRN MIR5002 SLC12A8 ITGB5 HEG1 MUC13 MIR6083 UMPS MIR544B |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |