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