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: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALAS2 | NM_000032.4 | 8 | 1219 | NP_000023.2 |
NM_001037967.3 | 7 | 1108 | NP_001033056.1 | |
NM_001037968.3 | 8 | 1215 | NP_001033057.1 | |
XM_005261995.3 | 9 | 1239 | XP_005262052.1 | |
XM_011530771.1 | 6 | 798 | XP_011529073.1 | |
XM_017029354.1 | 9 | 1240 | XP_016884843.1 | |
AK290565.1 | 7 | 1092 | ||
AK291589.1 | 7 | 1021 | ||
AK313118.1 | 8 | 1219 | ||
BC030230.2 | 7 | 1094 | ||
X56352.1 | 7 | 1078 | CAA39795.1 | |
X60364.1 | 8 | 1133 | 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 FGD1 XAGE3 MAGEH1 HUWE1 MIR6895 FAM156A GPR173 TRO APEX2 MIR6894 PHF8 TSPYL2 TSR2 MIRLET7F2 GNL3L MTRNR2L10 HSD17B10 USP51 PFKFB1 IQSEC2 SNORA11 ITIH6 FAM104B FAM156B PAGE3 ALAS2 FAM120C MIR98 WNK3 SNORA109 RIBC1 PAGE2B KANTR MIR4536-2 PAGE5 PAGE2 MIR6857 MIR4536-1 SMC1A MAGED2 LOC100421746 KDM5C |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | FOXR2 FGD1 XAGE3 MAGEH1 HUWE1 MIR6895 FAM156A GPR173 TRO APEX2 MIR6894 PHF8 TSPYL2 TSR2 MIRLET7F2 GNL3L MTRNR2L10 HSD17B10 USP51 PFKFB1 IQSEC2 SNORA11 ITIH6 FAM104B FAM156B PAGE3 ALAS2 FAM120C MIR98 WNK3 SNORA109 RIBC1 PAGE2B KANTR MIR4536-2 PAGE5 PAGE2 MIR6857 MIR4536-1 SMC1A MAGED2 LOC100421746 KDM5C |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |