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