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

Chr.3:52214114 on build GRCh38
Cytoband
3p21.2
Assay ID Hs02943564_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 12
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ALAS1 NM_000688.5 12 2239 NP_000679.1
NM_001304443.1 11 2051 NP_001291372.1
NM_001304444.1 12 2228 NP_001291373.1
NM_199166.2 11 2062 NP_954635.1
XM_011533477.1 12 2198 XP_011531779.1
XM_011533478.2 11 2022 XP_011531780.1
XM_017005873.1 10 1874 XP_016861362.1
AB063322.1 11 2013 BAB93514.1
AI868691.1 1 220
AK293190.1 11 1587
AK300993.1 12 2179
AK312566.1 11 2040
AY260745.1 12 2178 AAP94018.1
BC011798.2 12 2137 AAH11798.1
CD014147.1 1 133
X56351.1 11 1933 CAA39794.1
Y00451.1 11 1946 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 MIRLET7G WDR82 GLYCTK-AS1 ALAS1 LOC101929054 GLYCTK DNAH1 MIR135A1 PPM1M TWF2 TLR9
nsv954858 Chr.3:52211685 - 52237484 on Build GRCh38 Deletion ALAS1 TWF2 TLR9
nsv508926 Chr.3:52121853 - 52256394 on Build GRCh38 Insertion WDR82 ALAS1 LOC101929054 POC1A PPM1M TWF2 TLR9
nsv834694 Chr.3:52144967 - 52301805 on Build GRCh38 Gain MIRLET7G WDR82 GLYCTK-AS1 ALAS1 LOC101929054 GLYCTK MIR135A1 POC1A PPM1M TWF2 TLR9
nsv460537 Chr.3:52114217 - 52256534 on Build GRCh38 Loss WDR82 ALAS1 LOC101929054 POC1A PPM1M TWF2 TLR9
nsv519445 Chr.3:51970301 - 52333916 on Build GRCh38 Gain+Loss DUSP7 WDR82 LINC00696 ABHD14B ABHD14A-ACY1 DNAH1 MIR135A1 ACY1 TWF2 ABHD14A MIRLET7G GLYCTK-AS1 ALAS1 LOC101929054 GLYCTK POC1A PPM1M TLR9 RPL29
nsv470572 Chr.3:52089297 - 52316196 on Build GRCh38 Loss MIRLET7G WDR82 GLYCTK-AS1 ALAS1 LOC101929054 GLYCTK DNAH1 MIR135A1 POC1A PPM1M TWF2 TLR9

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