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 Intron 1 |
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 | |||
AK291589.1 | ||||
AK313118.1 | ||||
BP233279.1 | ||||
BP284609.1 | ||||
X60364.1 | CAA42916.1 |
Target Gene Details
Entrez Gene ID: | 389860 |
Gene Name: | PAGE family member 2B |
Gene Aliases: |
CT16.5, GAGEE3, PAGE-2B |
Location: |
Chr.X:55027927-55078903 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PAGE2B | XM_011530785.2 | XP_011529087.1 |
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 | ITIH6 XAGE3 FAM156A ALAS2 FAM104B PHF8 IQSEC2 TSPYL2 TSR2 HSD17B10 PAGE2 APEX2 MTRNR2L10 MIR6857 MAGEH1 PAGE5 MIR6895 HUWE1 PFKFB1 MIRLET7F2 KDM5C FOXR2 WNK3 FAM156B SMC1A KANTR USP51 SNORA109 FGD1 MAGED2 MIR6894 FAM120C GPR173 LOC100421746 TRO PAGE2B MIR98 GNL3L MIR4536-1 PAGE3 SNORA11 MIR4536-2 RIBC1 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | ITIH6 XAGE3 FAM156A ALAS2 FAM104B PHF8 IQSEC2 TSPYL2 TSR2 HSD17B10 PAGE2 APEX2 MTRNR2L10 MIR6857 MAGEH1 PAGE5 MIR6895 HUWE1 PFKFB1 MIRLET7F2 KDM5C FOXR2 WNK3 FAM156B SMC1A KANTR USP51 SNORA109 FGD1 MAGED2 MIR6894 FAM120C GPR173 LOC100421746 TRO PAGE2B MIR98 GNL3L MIR4536-1 PAGE3 SNORA11 MIR4536-2 RIBC1 |
More Information
Additional Information:
For this assay, SNP(s) [rs146785307] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |