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

Chr.3:52202625 on build GRCh38
Cytoband
3p21.2
Assay ID Hs01643136_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 Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ALAS1 NM_000688.5 4 700 NP_000679.1
NM_001304443.1 3 512 NP_001291372.1
NM_001304444.1 4 689 NP_001291373.1
NM_199166.2 3 523 NP_954635.1
XM_011533477.1 4 648 XP_011531779.1
XM_011533478.2 4 648 XP_011531780.1
XM_017005873.1 3 500 XP_016861362.1
AB063322.1 3 474 BAB93514.1
AK293190.1 4 306
AK300993.1 4 640
AK312566.1 3 501
AU279391.1 3 485
AY260745.1 4 639 AAP94018.1
BC011798.2 4 598 AAH11798.1
BM546974.1 3 548
BU173391.1 3 501
CD014147.1 9 1673
X56351.1 3 394 CAA39794.1
Y00451.1 3 398 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 TLR9 MIRLET7G ALAS1 PPM1M MIR135A1 DNAH1 GLYCTK-AS1 GLYCTK LOC101929054 WDR82 TWF2
nsv508926 Chr.3:52121853 - 52256394 on Build GRCh38 Insertion TLR9 ALAS1 PPM1M POC1A LOC101929054 WDR82 TWF2
nsv834694 Chr.3:52144967 - 52301805 on Build GRCh38 Gain TLR9 MIRLET7G ALAS1 PPM1M MIR135A1 GLYCTK-AS1 POC1A GLYCTK LOC101929054 WDR82 TWF2
nsv460537 Chr.3:52114217 - 52256534 on Build GRCh38 Loss TLR9 ALAS1 PPM1M POC1A LOC101929054 WDR82 TWF2
nsv519445 Chr.3:51970301 - 52333916 on Build GRCh38 Gain+Loss TLR9 MIRLET7G ALAS1 PPM1M MIR135A1 LINC00696 GLYCTK-AS1 ABHD14A LOC101929054 WDR82 ACY1 RPL29 DNAH1 DUSP7 ABHD14A-ACY1 POC1A GLYCTK ABHD14B TWF2
nsv470572 Chr.3:52089297 - 52316196 on Build GRCh38 Loss TLR9 MIRLET7G ALAS1 PPM1M MIR135A1 DNAH1 GLYCTK-AS1 POC1A GLYCTK LOC101929054 WDR82 TWF2

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