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 5 - Exon 5 |
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 | ||||
BP233279.1 | ||||
BP284609.1 | ||||
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 | HUWE1 FAM156A MIR4536-2 MIR4536-1 XAGE3 FAM120C MIR6894 FAM156B TSPYL2 MAGEH1 PAGE5 MIR6895 PFKFB1 USP51 SNORA11 PAGE2B TRO PAGE2 PAGE3 SMC1A SNORA109 LOC100421746 PHF8 GNL3L KDM5C ITIH6 GPR173 IQSEC2 FAM104B MIRLET7F2 APEX2 WNK3 HSD17B10 MIR6857 ALAS2 KANTR MAGED2 TSR2 MTRNR2L10 FGD1 RIBC1 FOXR2 MIR98 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | HUWE1 FAM156A MIR4536-2 MIR4536-1 XAGE3 FAM120C MIR6894 FAM156B TSPYL2 MAGEH1 PAGE5 MIR6895 PFKFB1 USP51 SNORA11 PAGE2B TRO PAGE2 PAGE3 SMC1A SNORA109 LOC100421746 PHF8 GNL3L KDM5C ITIH6 GPR173 IQSEC2 FAM104B MIRLET7F2 APEX2 WNK3 HSD17B10 MIR6857 ALAS2 KANTR MAGED2 TSR2 MTRNR2L10 FGD1 RIBC1 FOXR2 MIR98 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |