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 Exon 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HEG1 | NM_020733.1 | 17 | 6464 | NP_065784.1 |
XM_005247666.1 | 18 | 6759 | XP_005247723.1 | |
AB033063.2 | 16 | 6059 | BAA86551.2 | |
AF173887.1 | 1 | 1609 | AAQ13634.1 | |
AK074987.1 | 7 | 3050 | BAC11336.1 |
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 | HEG1 ZNF148 MIR544B MUC13 SLC12A8 ITGB5 MIR5092 UMPS KALRN |
nsv1001677 | Chr.3:124015843 - 125108694 on Build GRCh38 | Loss | HEG1 MIR544B MUC13 SLC12A8 MIR5002 ITGB5 MIR6083 UMPS KALRN |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |