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