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: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SERPING1 | NM_000062.2 | NP_000053.2 | ||
AB209826.1 | BAD93063.1 | |||
AK293054.1 | ||||
AK303809.1 | ||||
AK303840.1 | ||||
AK312626.1 | ||||
AL703442.1 |
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 MIR130A SMTNL1 YPEL4 TMX2-CTNND1 ZDHHC5 TMX2 CLP1 MED19 UBE2L6 |
nsv1126294 | Chr.11:57597027 - 57598327 on Build GRCh38 | Deletion | SERPING1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |