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

Chr.3:52204852 on build GRCh38
Cytoband
3p21.2
Assay ID Hs00919458_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 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ALAS1 NM_000688.5 6 1119 NP_000679.1
NM_001304443.1 5 931 NP_001291372.1
NM_001304444.1 6 1108 NP_001291373.1
NM_199166.2 5 942 NP_954635.1
XM_011533477.1 6 1067 XP_011531779.1
XM_011533478.2 6 1067 XP_011531780.1
XM_017005873.1 5 919 XP_016861362.1
AB063322.1 5 893 BAB93514.1
AK293190.1 6 725
AK300993.1 6 1059
AK312566.1 5 920
AY260745.1 6 1058 AAP94018.1
BC011798.2 6 1017 AAH11798.1
BM546974.1 5 967
BU173391.1
CD014147.1 7 1254
X56351.1 5 813 CAA39794.1
Y00451.1 5 826 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 TWF2 ALAS1 LOC101929054 MIRLET7G TLR9 PPM1M GLYCTK-AS1 GLYCTK WDR82 DNAH1
nsv508926 Chr.3:52121853 - 52256394 on Build GRCh38 Insertion TWF2 ALAS1 LOC101929054 POC1A TLR9 PPM1M WDR82
nsv834694 Chr.3:52144967 - 52301805 on Build GRCh38 Gain MIR135A1 TWF2 ALAS1 LOC101929054 POC1A MIRLET7G TLR9 PPM1M GLYCTK-AS1 GLYCTK WDR82
nsv460537 Chr.3:52114217 - 52256534 on Build GRCh38 Loss TWF2 ALAS1 LOC101929054 POC1A TLR9 PPM1M WDR82
nsv519445 Chr.3:51970301 - 52333916 on Build GRCh38 Gain+Loss LINC00696 ALAS1 GLYCTK-AS1 ABHD14A MIR135A1 ACY1 ABHD14B TWF2 LOC101929054 ABHD14A-ACY1 POC1A DUSP7 MIRLET7G TLR9 PPM1M GLYCTK RPL29 WDR82 DNAH1
nsv470572 Chr.3:52089297 - 52316196 on Build GRCh38 Loss MIR135A1 TWF2 ALAS1 LOC101929054 POC1A MIRLET7G TLR9 PPM1M GLYCTK-AS1 GLYCTK WDR82 DNAH1

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