Assay Details
Target Gene Details
Entrez Gene ID: | 5265 |
Gene Name: | serpin family A member 1 |
Gene Aliases: |
A1A, A1AT, AAT, PI, PI1, PRO2275, alpha1AT |
Location: |
Chr.14:94376747-94390692 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SERPINA1 | NM_000295.4 | 5 | 2306 | NP_000286.3 |
NM_001002235.2 | 5 | 2285 | NP_001002235.1 | |
NM_001002236.2 | 7 | 2599 | NP_001002236.1 | |
NM_001127700.1 | 5 | 2322 | NP_001121172.1 | |
NM_001127701.1 | 7 | 2618 | NP_001121173.1 | |
NM_001127702.1 | 6 | 2426 | NP_001121174.1 | |
NM_001127703.1 | 7 | 2581 | NP_001121175.1 | |
NM_001127704.1 | 7 | 2578 | NP_001121176.1 | |
NM_001127705.1 | 7 | 2596 | NP_001121177.1 | |
NM_001127706.1 | 6 | 2389 | NP_001121178.1 | |
NM_001127707.1 | 6 | 2386 | NP_001121179.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv513750 | Chr.14:94366384 - 94379988 on Build GRCh38 | Insertion | SERPINA2 SERPINA1 |
nsv1120301 | Chr.14:94363766 - 94380253 on Build GRCh38 | Tandem Duplication | SERPINA2 SERPINA1 |
nsv509545 | Chr.14:94360156 - 94400412 on Build GRCh38 | Insertion | SERPINA2 SERPINA1 |
nsv832863 | Chr.14:94348482 - 94501487 on Build GRCh38 | Gain | SERPINA2 SERPINA11 SERPINA9 SERPINA12 SERPINA1 |
nsv512370 | Chr.14:94362618 - 94378920 on Build GRCh38 | Loss | SERPINA2 SERPINA1 |
nsv470662 | Chr.14:94296542 - 94798793 on Build GRCh38 | Gain | SERPINA2 SERPINA11 SERPINA13P SERPINA9 SERPINA4 GSC SERPINA6 SERPINA12 SERPINA1 SERPINA5 SERPINA3 |
nsv1406 | Chr.14:94361166 - 94394512 on Build GRCh38 | Insertion | SERPINA2 SERPINA1 |
nsv832864 | Chr.14:94362101 - 94538150 on Build GRCh38 | Loss | SERPINA2 SERPINA11 SERPINA9 SERPINA12 SERPINA1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |