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 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALAS2 | NM_000032.4 | 11 | 1900 | NP_000023.2 |
NM_001037967.3 | 10 | 1789 | NP_001033056.1 | |
NM_001037968.3 | 11 | 1896 | NP_001033057.1 | |
XM_005261995.3 | 12 | 1920 | XP_005262052.1 | |
XM_011530771.1 | 9 | 1479 | XP_011529073.1 | |
AK290565.1 | 10 | 1773 | ||
AK291589.1 | 10 | 1702 | ||
AK313118.1 | ||||
BC030230.2 | 10 | 1775 | ||
BQ182291.1 | 1 | 145 | ||
X56352.1 | 10 | 1759 | CAA39795.1 | |
X60364.1 | 11 | 1814 | 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 | LOC100421746 FOXR2 PAGE5 PFKFB1 FAM156B PAGE3 GPR173 KDM5C PAGE2 SNORA11 MIR6857 GNL3L MIRLET7F2 SNORA109 MTRNR2L10 MIR4536-1 MIR6895 WNK3 PAGE2B ALAS2 KANTR MIR4536-2 SMC1A XAGE3 TRO ITIH6 APEX2 MIR98 TSPYL2 IQSEC2 PHF8 FAM156A FAM120C FAM104B MAGEH1 FGD1 TSR2 MIR6894 RIBC1 USP51 MAGED2 HUWE1 HSD17B10 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | LOC100421746 FOXR2 PAGE5 PFKFB1 FAM156B PAGE3 GPR173 KDM5C PAGE2 SNORA11 MIR6857 GNL3L MIRLET7F2 SNORA109 MTRNR2L10 MIR4536-1 MIR6895 WNK3 PAGE2B ALAS2 KANTR MIR4536-2 SMC1A XAGE3 TRO ITIH6 APEX2 MIR98 TSPYL2 IQSEC2 PHF8 FAM156A FAM120C FAM104B MAGEH1 FGD1 TSR2 MIR6894 RIBC1 USP51 MAGED2 HUWE1 HSD17B10 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |