Assay Details
Target Gene Details
Entrez Gene ID: | 710 |
Gene Name: | serpin family G member 1 |
Gene Aliases: |
C1IN, C1INH, C1NH, HAE1, HAE2 |
Location: |
Chr.11:57597554-57614853 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SERPING1 | NM_000062.2 | 8 | 1843 | NP_000053.2 |
NM_001032295.1 | 7 | 1691 | NP_001027466.1 | |
AB209826.1 | 8 | 1699 | BAD93063.1 | |
AK293054.1 | 8 | 1707 | ||
AK303809.1 | ||||
AK303840.1 | 7 | 1634 | ||
BC011171.2 | 7 | 1673 | AAH11171.1 | |
BQ183346.1 | 1 | 142 | ||
GU727623.1 | 7 | 1691 | ||
M13656.1 | 7 | 1687 | AAB59387.1 | |
M13690.1 | 7 | 1689 | AAA35613.1 | |
M14036.1 | 5 | 1017 | AAA51848.1 | |
X07577.1 | 6 | 1123 | CAA30469.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832163 | Chr.11:57531881 - 57713578 on Build GRCh38 | Gain | SERPING1 TMX2-CTNND1 YPEL4 SMTNL1 CLP1 UBE2L6 MIR130A MED19 ZDHHC5 TMX2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |