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See other ALAS1 CNV Assays ›
Gene Symbol
ALAS1
Assay Reference Genome
Location

Chr.3:52200930 on build GRCh38
Cytoband
3p21.2
Assay ID Hs04250649_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 211

Gene Name:

 5'-aminolevulinate synthase 1

Gene Aliases:

 ALAS, ALAS-H, ALAS3, ALASH, MIG4

Location:

 Chr.3:52198083-52214327 on Build GRCh38

Assay Gene Location:

 Within Intron 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ALAS1 NM_000688.5 NP_000679.1
NM_001304443.1 NP_001291372.1
NM_001304444.1 NP_001291373.1
NM_199166.2 NP_954635.1
XM_011533477.1 XP_011531779.1
XM_011533478.2 XP_011531780.1
XM_017005873.1 XP_016861362.1
AB063322.1 BAB93514.1
AK293190.1
AK300993.1
AK312566.1
AU279391.1
AY260745.1 AAP94018.1
BC011798.2 AAH11798.1
BM546974.1
BU173391.1
X56351.1 CAA39794.1
Y00451.1 CAA68506.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv834695 Chr.3:52165685 - 52366561 on Build GRCh38 Loss MIR135A1 DNAH1 PPM1M ALAS1 LOC101929054 MIRLET7G TLR9 TWF2 GLYCTK-AS1 GLYCTK WDR82
nsv508926 Chr.3:52121853 - 52256394 on Build GRCh38 Insertion PPM1M ALAS1 LOC101929054 TLR9 TWF2 POC1A WDR82
nsv834694 Chr.3:52144967 - 52301805 on Build GRCh38 Gain MIR135A1 PPM1M ALAS1 LOC101929054 MIRLET7G TLR9 TWF2 GLYCTK-AS1 POC1A GLYCTK WDR82
nsv460537 Chr.3:52114217 - 52256534 on Build GRCh38 Loss PPM1M ALAS1 LOC101929054 TLR9 TWF2 POC1A WDR82
nsv519445 Chr.3:51970301 - 52333916 on Build GRCh38 Gain+Loss MIR135A1 ABHD14B PPM1M MIRLET7G TLR9 TWF2 GLYCTK-AS1 ABHD14A DUSP7 LINC00696 DNAH1 RPL29 ALAS1 LOC101929054 ABHD14A-ACY1 POC1A GLYCTK ACY1 WDR82
nsv470572 Chr.3:52089297 - 52316196 on Build GRCh38 Loss MIR135A1 DNAH1 PPM1M ALAS1 LOC101929054 MIRLET7G TLR9 TWF2 GLYCTK-AS1 POC1A GLYCTK WDR82

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

transaminase

Gene Ontology Categories:

Function(s) Process(es)


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