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 | 6018 | NP_001268392.1 |
NM_006306.3 | 25 | 5872 | NP_006297.2 | |
AK091458.1 | ||||
D80000.2 | 25 | 5744 | BAA11495.2 |
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 | ALAS2 GNL3L KANTR FAM120C IQSEC2 SNORA11 ITIH6 MIR4536-2 PFKFB1 PHF8 MIR6895 APEX2 FAM104B USP51 MIR4536-1 MIRLET7F2 HSD17B10 FOXR2 LOC100421746 MIR6857 WNK3 TSR2 MAGED2 RIBC1 GPR173 PAGE3 HUWE1 KDM5C PAGE5 PAGE2B SMC1A MIR6894 MAGEH1 FAM156A TSPYL2 SNORA109 MTRNR2L10 FAM156B XAGE3 MIR98 PAGE2 TRO FGD1 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | ALAS2 GNL3L KANTR FAM120C IQSEC2 SNORA11 ITIH6 MIR4536-2 PFKFB1 PHF8 MIR6895 APEX2 FAM104B USP51 MIR4536-1 MIRLET7F2 HSD17B10 FOXR2 LOC100421746 MIR6857 WNK3 TSR2 MAGED2 RIBC1 GPR173 PAGE3 HUWE1 KDM5C PAGE5 PAGE2B SMC1A MIR6894 MAGEH1 FAM156A TSPYL2 SNORA109 MTRNR2L10 FAM156B XAGE3 MIR98 PAGE2 TRO FGD1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |