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See other ALAS2 CNV Assays ›
Gene Symbol
ALAS2
Assay Reference Genome
Location

Chr.X:55013641 on build GRCh38
Cytoband
Xp11.21
Assay ID Hs01357444_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 212

Gene Name:

 5'-aminolevulinate synthase 2

Gene Aliases:

 ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA

Location:

 Chr.X:55009055-55031064 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 10 - Exon 11
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ALAS2 NM_000032.4 NP_000023.2
NM_001037967.3 NP_001033056.1
NM_001037968.3 NP_001033057.1
XM_005261995.3 XP_005262052.1
XM_011530771.1 XP_011529073.1
XM_017029354.1 XP_016884843.1
AK290565.1
AK291589.1
AK313118.1
BC030230.2
BQ182291.1
X56352.1 CAA39795.1
X60364.1 CAA42916.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2740175 Chr.X:52862926 - 55652533 on Build GRCh38 Deletion XAGE3 HUWE1 MTRNR2L10 SNORA11 MIRLET7F2 GNL3L FAM156A PAGE3 PAGE5 FAM104B TSPYL2 IQSEC2 ITIH6 PFKFB1 MIR4536-2 WNK3 FAM120C PHF8 ALAS2 FAM156B PAGE2 PAGE2B SMC1A MIR6895 HSD17B10 RIBC1 MIR6894 MIR4536-1 USP51 LOC100421746 KANTR GPR173 KDM5C TRO FOXR2 APEX2 FGD1 TSR2 MAGED2 MIR98 MAGEH1 SNORA109 MIR6857
nsv435891 Chr.X:52861979 - 55653313 on Build GRCh38 Deletion XAGE3 HUWE1 MTRNR2L10 SNORA11 MIRLET7F2 GNL3L FAM156A PAGE3 PAGE5 FAM104B TSPYL2 IQSEC2 ITIH6 PFKFB1 MIR4536-2 WNK3 FAM120C PHF8 ALAS2 FAM156B PAGE2 PAGE2B SMC1A MIR6895 HSD17B10 RIBC1 MIR6894 MIR4536-1 USP51 LOC100421746 KANTR GPR173 KDM5C TRO FOXR2 APEX2 FGD1 TSR2 MAGED2 MIR98 MAGEH1 SNORA109 MIR6857

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