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 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SERPING1 | NM_000062.2 | 5 | 1004 | NP_000053.2 |
NM_001032295.1 | 4 | 852 | NP_001027466.1 | |
AB209826.1 | 5 | 860 | BAD93063.1 | |
AK293054.1 | 5 | 868 | ||
AK303809.1 | 5 | 889 | ||
AK303840.1 | 4 | 795 | ||
AK312626.1 | 5 | 873 | ||
AY732485.1 | 3 | 314 | AAV33124.1 | |
AY732486.1 | AAV33125.1 | |||
BC011171.2 | 4 | 834 | AAH11171.1 | |
BT006966.1 | 4 | 813 | AAP35612.1 | |
GU727623.1 | 4 | 852 | ||
KU177948.1 | 4 | 813 | ||
KU177949.1 | 3 | 314 | ||
KU177950.1 | ||||
KU177951.1 | ||||
M13203.1 | 1 | 95 | AAA51849.1 | |
M13656.1 | 4 | 848 | AAB59387.1 | |
M13690.1 | 4 | 850 | AAA35613.1 | |
M14036.1 | 2 | 178 | AAA51848.1 | |
X07577.1 | 3 | 284 | 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 | UBE2L6 YPEL4 TMX2 ZDHHC5 MIR130A SERPING1 MED19 CLP1 TMX2-CTNND1 SMTNL1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |