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 | 5483 | NP_001268392.1 |
NM_006306.3 | 25 | 5337 | NP_006297.2 | |
D80000.2 | 25 | 5209 | BAA11495.2 | |
S78271.1 | AAB34405.1 |
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 | PAGE5 FOXR2 TSR2 WNK3 TRO MIR4536-1 USP51 MIR6895 KANTR MTRNR2L10 MIR98 PAGE2B MAGED2 FAM104B LOC100421746 PAGE2 HSD17B10 PAGE3 SNORA11 FAM156A APEX2 ALAS2 MAGEH1 SMC1A FAM156B XAGE3 MIR6894 GNL3L GPR173 RIBC1 PFKFB1 FGD1 IQSEC2 KDM5C SNORA109 TSPYL2 MIR6857 PHF8 MIRLET7F2 FAM120C MIR4536-2 ITIH6 HUWE1 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | PAGE5 FOXR2 TSR2 WNK3 TRO MIR4536-1 USP51 MIR6895 KANTR MTRNR2L10 MIR98 PAGE2B MAGED2 FAM104B LOC100421746 PAGE2 HSD17B10 PAGE3 SNORA11 FAM156A APEX2 ALAS2 MAGEH1 SMC1A FAM156B XAGE3 MIR6894 GNL3L GPR173 RIBC1 PFKFB1 FGD1 IQSEC2 KDM5C SNORA109 TSPYL2 MIR6857 PHF8 MIRLET7F2 FAM120C MIR4536-2 ITIH6 HUWE1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |