Assay Details
Target Gene Details
Entrez Gene ID: | 871 |
Gene Name: | serpin family H member 1 |
Gene Aliases: |
AsTP3, CBP1, CBP2, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2, gp46 |
Location: |
Chr.11:75562056-75572804 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SERPINH1 | NM_001207014.1 | 5 | 1209 | NP_001193943.1 |
NM_001235.3 | 4 | 1165 | NP_001226.2 | |
XM_011545327.1 | 5 | 978 | XP_011543629.1 | |
AB044778.1 | 3 | 867 | BAA96788.1 | |
AB044779.1 | 3 | 867 | BAA96789.1 | |
AK075504.1 | 4 | 724 | ||
AK094047.1 | 2 | 1193 | ||
AK122936.1 | 4 | 2302 | ||
AK130870.1 | 5 | 943 | ||
AK290124.1 | 5 | 1146 | ||
AK297811.1 | 5 | 906 | ||
AK309905.1 | 5 | 1012 | ||
AY264853.1 | 4 | 951 | AAP93914.1 | |
AY744367.1 | 3 | 900 | AAU95378.1 | |
BC014623.2 | 4 | 956 | AAH14623.1 | |
BC036298.1 | 4 | 945 | AAH36298.2 | |
BC070087.1 | 4 | 968 | AAH70087.1 | |
BT007094.1 | 3 | 867 | AAP35758.1 | |
D83174.1 | 4 | 954 | BAA11829.1 | |
X61598.1 | 3 | 897 | CAA43795.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv525193 | Chr.11:75565133 - 75576296 on Build GRCh38 | Loss | SERPINH1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |