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

Chr.X:55009182 on build GRCh38
Cytoband
Xp11.21
Assay ID Hs01427376_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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:

 Within Exon 13
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ALAS2 NM_000032.4 11 1900 NP_000023.2
NM_001037967.3 10 1789 NP_001033056.1
NM_001037968.3 11 1896 NP_001033057.1
XM_005261995.3 12 1920 XP_005262052.1
XM_011530771.1 9 1479 XP_011529073.1
AK290565.1 10 1773
AK291589.1 10 1702
AK313118.1
BC030230.2 10 1775
BQ182291.1 1 145
X56352.1 10 1759 CAA39795.1
X60364.1 11 1814 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 LOC100421746 FOXR2 PAGE5 PFKFB1 FAM156B PAGE3 GPR173 KDM5C PAGE2 SNORA11 MIR6857 GNL3L MIRLET7F2 SNORA109 MTRNR2L10 MIR4536-1 MIR6895 WNK3 PAGE2B ALAS2 KANTR MIR4536-2 SMC1A XAGE3 TRO ITIH6 APEX2 MIR98 TSPYL2 IQSEC2 PHF8 FAM156A FAM120C FAM104B MAGEH1 FGD1 TSR2 MIR6894 RIBC1 USP51 MAGED2 HUWE1 HSD17B10
nsv435891 Chr.X:52861979 - 55653313 on Build GRCh38 Deletion LOC100421746 FOXR2 PAGE5 PFKFB1 FAM156B PAGE3 GPR173 KDM5C PAGE2 SNORA11 MIR6857 GNL3L MIRLET7F2 SNORA109 MTRNR2L10 MIR4536-1 MIR6895 WNK3 PAGE2B ALAS2 KANTR MIR4536-2 SMC1A XAGE3 TRO ITIH6 APEX2 MIR98 TSPYL2 IQSEC2 PHF8 FAM156A FAM120C FAM104B MAGEH1 FGD1 TSR2 MIR6894 RIBC1 USP51 MAGED2 HUWE1 HSD17B10

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