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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SERPINA1 | NM_000295.4 | 2 | 764 | NP_000286.3 |
NM_001002235.2 | 2 | 743 | NP_001002235.1 | |
NM_001002236.2 | 4 | 1057 | NP_001002236.1 | |
NM_001127700.1 | 2 | 780 | NP_001121172.1 | |
NM_001127701.1 | 4 | 1076 | NP_001121173.1 | |
NM_001127702.1 | 3 | 884 | NP_001121174.1 | |
NM_001127703.1 | 4 | 1039 | NP_001121175.1 | |
NM_001127704.1 | 4 | 1036 | NP_001121176.1 | |
NM_001127705.1 | 4 | 1054 | NP_001121177.1 | |
NM_001127706.1 | 3 | 847 | NP_001121178.1 | |
NM_001127707.1 | 3 | 844 | NP_001121179.1 | |
XM_017021370.1 | 3 | 944 | XP_016876859.1 | |
AK026174.1 | 2 | 546 | ||
AK315637.1 | 3 | 800 | ||
BC011991.1 | 2 | 735 | AAH11991.1 | |
BC015642.2 | 2 | 530 | AAH15642.1 | |
BG483969.1 | ||||
BT019455.1 | 1 | 503 | AAV38262.1 | |
BX161449.1 | 2 | 670 | CAD61914.1 | |
BX247968.1 | 4 | 984 | CAD62306.1 | |
BX248002.1 | 1 | 512 | CAD62334.1 | |
BX248257.1 | 2 | 537 | CAD62585.1 | |
DQ682455.1 | 1 | 503 | ||
GU727620.1 | 1 | 504 | ||
K01396.1 | 1 | 522 | AAB59375.1 | |
KU178257.1 | 1 | 503 | ||
KU178258.1 | ||||
M11465.1 | 1 | 517 | AAA51546.1 | |
X01683.1 | 1 | 541 | CAA25838.1 | |
X17122.1 | 1 | 82 | CAA34982.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv509545 | Chr.14:94360156 - 94400412 on Build GRCh38 | Insertion |
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nsv832863 | Chr.14:94348482 - 94501487 on Build GRCh38 | Gain |
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nsv470662 | Chr.14:94296542 - 94798793 on Build GRCh38 | Gain |
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nsv1406 | Chr.14:94361166 - 94394512 on Build GRCh38 | Insertion |
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nsv832864 | Chr.14:94362101 - 94538150 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)