Assay Details
Target Gene Details
Entrez Gene ID: | 8243 |
Gene Name: | structural maintenance of chromosomes 1A |
Gene Aliases: |
CDLS2, DXS423E, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB |
Location: |
Chr.X:53374149-53422728 on Build GRCh38 |
Assay Gene Location: | Within Exon 26 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMC1A | NM_001281463.1 | 26 | 8924 | NP_001268392.1 |
NM_006306.3 | 25 | 8778 | NP_006297.2 | |
AK055575.1 | 2 | 1974 | ||
AK056308.1 | 1 | 1016 | ||
AK091458.1 | 1 | 2875 |
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 | MIR6895 APEX2 FOXR2 ITIH6 GPR173 IQSEC2 TSPYL2 PHF8 FGD1 SNORA109 MIR4536-2 MIRLET7F2 TRO PFKFB1 FAM104B FAM120C FAM156B MIR98 MIR6894 KDM5C RIBC1 PAGE5 PAGE2B FAM156A SNORA11 KANTR WNK3 XAGE3 PAGE3 HUWE1 MTRNR2L10 LOC100421746 ALAS2 HSD17B10 GNL3L SMC1A MIR4536-1 USP51 MIR6857 MAGEH1 PAGE2 TSR2 MAGED2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIR6895 APEX2 FOXR2 ITIH6 GPR173 IQSEC2 TSPYL2 PHF8 FGD1 SNORA109 MIR4536-2 MIRLET7F2 TRO PFKFB1 FAM104B FAM120C FAM156B MIR98 MIR6894 KDM5C RIBC1 PAGE5 PAGE2B FAM156A SNORA11 KANTR WNK3 XAGE3 PAGE3 HUWE1 MTRNR2L10 LOC100421746 ALAS2 HSD17B10 GNL3L SMC1A MIR4536-1 USP51 MIR6857 MAGEH1 PAGE2 TSR2 MAGED2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |