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 6 |
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 | ||||
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 | MIR4536-2 WNK3 RIBC1 LOC100421746 TRO KDM5C MAGEH1 KANTR PAGE2 TSPYL2 MIR98 GNL3L MAGED2 FAM120C PAGE2B MIR6895 HUWE1 PAGE5 FAM156B FGD1 FAM156A PFKFB1 MIR6857 SNORA109 USP51 FOXR2 PHF8 SMC1A APEX2 GPR173 HSD17B10 MIR6894 TSR2 SNORA11 ITIH6 MTRNR2L10 IQSEC2 MIR4536-1 PAGE3 XAGE3 FAM104B MIRLET7F2 ALAS2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIR4536-2 WNK3 RIBC1 LOC100421746 TRO KDM5C MAGEH1 KANTR PAGE2 TSPYL2 MIR98 GNL3L MAGED2 FAM120C PAGE2B MIR6895 HUWE1 PAGE5 FAM156B FGD1 FAM156A PFKFB1 MIR6857 SNORA109 USP51 FOXR2 PHF8 SMC1A APEX2 GPR173 HSD17B10 MIR6894 TSR2 SNORA11 ITIH6 MTRNR2L10 IQSEC2 MIR4536-1 PAGE3 XAGE3 FAM104B MIRLET7F2 ALAS2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |