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 2 - Exon 2 |
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 | |||
AK291589.1 | ||||
AK313118.1 | ||||
BC030230.2 | ||||
BP233279.1 | ||||
BP284609.1 | ||||
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 MAGED2 MAGEH1 MIR6857 MIR6895 FAM104B HSD17B10 TSR2 ITIH6 PAGE2B SNORA109 GPR173 TRO PAGE5 FAM120C KANTR KDM5C HUWE1 FAM156B FOXR2 MIR6894 MTRNR2L10 PFKFB1 IQSEC2 PAGE3 FAM156A APEX2 RIBC1 ALAS2 SNORA11 PAGE2 TSPYL2 WNK3 FGD1 MIRLET7F2 SMC1A MIR4536-2 PHF8 MIR98 LOC100421746 GNL3L USP51 MIR4536-1 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | XAGE3 MAGED2 MAGEH1 MIR6857 MIR6895 FAM104B HSD17B10 TSR2 ITIH6 PAGE2B SNORA109 GPR173 TRO PAGE5 FAM120C KANTR KDM5C HUWE1 FAM156B FOXR2 MIR6894 MTRNR2L10 PFKFB1 IQSEC2 PAGE3 FAM156A APEX2 RIBC1 ALAS2 SNORA11 PAGE2 TSPYL2 WNK3 FGD1 MIRLET7F2 SMC1A MIR4536-2 PHF8 MIR98 LOC100421746 GNL3L USP51 MIR4536-1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |