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 | 8521 | NP_001268392.1 |
NM_006306.3 | 25 | 8375 | NP_006297.2 | |
AK055575.1 | 2 | 1571 | ||
AK056308.1 | 1 | 613 | ||
AK091458.1 | 1 | 2472 |
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 | FOXR2 FAM156B TRO TSPYL2 FAM104B PAGE5 TSR2 USP51 MIR6857 LOC100421746 PFKFB1 MIR98 MIR4536-2 SNORA109 SNORA11 SMC1A FGD1 HSD17B10 MIR6895 GNL3L ALAS2 PHF8 HUWE1 PAGE3 KANTR KDM5C MAGEH1 PAGE2 RIBC1 MIR6894 MTRNR2L10 MAGED2 FAM156A WNK3 ITIH6 GPR173 XAGE3 PAGE2B IQSEC2 FAM120C MIR4536-1 MIRLET7F2 APEX2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | FOXR2 FAM156B TRO TSPYL2 FAM104B PAGE5 TSR2 USP51 MIR6857 LOC100421746 PFKFB1 MIR98 MIR4536-2 SNORA109 SNORA11 SMC1A FGD1 HSD17B10 MIR6895 GNL3L ALAS2 PHF8 HUWE1 PAGE3 KANTR KDM5C MAGEH1 PAGE2 RIBC1 MIR6894 MTRNR2L10 MAGED2 FAM156A WNK3 ITIH6 GPR173 XAGE3 PAGE2B IQSEC2 FAM120C MIR4536-1 MIRLET7F2 APEX2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |