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 | 5150 | NP_001268392.1 |
NM_006306.3 | 25 | 5004 | NP_006297.2 | |
D80000.2 | 25 | 4876 | BAA11495.2 | |
S78271.1 | 25 | 4909 | 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 | PAGE3 PHF8 KANTR MAGED2 MIR6895 XAGE3 MIR4536-2 FAM104B SMC1A HSD17B10 RIBC1 GPR173 TRO WNK3 MAGEH1 FAM156B TSR2 PFKFB1 HUWE1 MIRLET7F2 MIR6894 FAM120C APEX2 SNORA109 GNL3L USP51 LOC100421746 ITIH6 PAGE2B IQSEC2 FAM156A ALAS2 SNORA11 FGD1 PAGE5 FOXR2 MIR98 KDM5C MTRNR2L10 MIR6857 PAGE2 MIR4536-1 TSPYL2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | PAGE3 PHF8 KANTR MAGED2 MIR6895 XAGE3 MIR4536-2 FAM104B SMC1A HSD17B10 RIBC1 GPR173 TRO WNK3 MAGEH1 FAM156B TSR2 PFKFB1 HUWE1 MIRLET7F2 MIR6894 FAM120C APEX2 SNORA109 GNL3L USP51 LOC100421746 ITIH6 PAGE2B IQSEC2 FAM156A ALAS2 SNORA11 FGD1 PAGE5 FOXR2 MIR98 KDM5C MTRNR2L10 MIR6857 PAGE2 MIR4536-1 TSPYL2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |