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