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See other SERPINA1 CNV Assays ›
Gene Symbol
SERPINA1
Assay Reference Genome
Location

Chr.14:94378977 on build GRCh38
Cytoband
14q32.13
Assay ID Hs05315066_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 Intron 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SERPINA1 NM_000295.4 NP_000286.3
NM_001002235.2 NP_001002235.1
NM_001002236.2 NP_001002236.1
NM_001127700.1 NP_001121172.1
NM_001127701.1 NP_001121173.1
NM_001127702.1 NP_001121174.1
NM_001127703.1 NP_001121175.1
NM_001127704.1 NP_001121176.1
NM_001127705.1 NP_001121177.1
NM_001127706.1 NP_001121178.1
NM_001127707.1 NP_001121179.1
XM_017021370.1 XP_016876859.1
AK026174.1
AK315637.1
BC011991.1 AAH11991.1
BC015642.2 AAH15642.1
BT019455.1 AAV38262.1
BX161449.1 CAD61914.1
BX247968.1 CAD62306.1
BX248002.1 CAD62334.1
DQ682455.1
FJ830375.1
GU727620.1
K01396.1 AAB59375.1
KU178257.1
KU178258.1
M11465.1 AAA51546.1
V00496.1 CAA23755.1
X01683.1 CAA25838.1
X02920.1 CAA26677.1

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 SERPINA9 SERPINA12 SERPINA2 SERPINA1 SERPINA11
nsv470662 Chr.14:94296542 - 94798793 on Build GRCh38 Gain SERPINA9 SERPINA13P SERPINA12 SERPINA2 SERPINA6 GSC SERPINA1 SERPINA11 SERPINA4 SERPINA5 SERPINA3
nsv1406 Chr.14:94361166 - 94394512 on Build GRCh38 Insertion SERPINA2 SERPINA1
nsv832864 Chr.14:94362101 - 94538150 on Build GRCh38 Loss SERPINA9 SERPINA12 SERPINA2 SERPINA1 SERPINA11

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