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 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALAS2 | NM_000032.4 | 7 | 1105 | NP_000023.2 |
NM_001037967.3 | 6 | 994 | NP_001033056.1 | |
NM_001037968.3 | 7 | 1101 | NP_001033057.1 | |
XM_005261995.3 | 8 | 1125 | XP_005262052.1 | |
XM_011530771.1 | 5 | 684 | XP_011529073.1 | |
XM_017029354.1 | 8 | 1126 | XP_016884843.1 | |
AK290565.1 | 6 | 978 | ||
AK291589.1 | 6 | 907 | ||
AK313118.1 | 7 | 1105 | ||
BC030230.2 | 6 | 980 | ||
X56352.1 | 6 | 964 | CAA39795.1 | |
X60364.1 | 7 | 1019 | 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 | KANTR MIR6894 SNORA11 FAM104B PHF8 MIR6895 MIR6857 PAGE5 MIR98 MIR4536-1 USP51 HSD17B10 RIBC1 TRO TSPYL2 FAM156B FAM120C HUWE1 ITIH6 MTRNR2L10 GNL3L MIR4536-2 PFKFB1 LOC100421746 APEX2 PAGE2 MAGED2 XAGE3 MIRLET7F2 WNK3 SMC1A PAGE3 KDM5C MAGEH1 GPR173 PAGE2B FOXR2 FAM156A TSR2 ALAS2 SNORA109 FGD1 IQSEC2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | KANTR MIR6894 SNORA11 FAM104B PHF8 MIR6895 MIR6857 PAGE5 MIR98 MIR4536-1 USP51 HSD17B10 RIBC1 TRO TSPYL2 FAM156B FAM120C HUWE1 ITIH6 MTRNR2L10 GNL3L MIR4536-2 PFKFB1 LOC100421746 APEX2 PAGE2 MAGED2 XAGE3 MIRLET7F2 WNK3 SMC1A PAGE3 KDM5C MAGEH1 GPR173 PAGE2B FOXR2 FAM156A TSR2 ALAS2 SNORA109 FGD1 IQSEC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |