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 | 9521 | NP_001268392.1 |
NM_006306.3 | 25 | 9375 | NP_006297.2 | |
AK055575.1 | 2 | 2571 | ||
AK056308.1 | 1 | 1613 |
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 | MIR6894 TSR2 MTRNR2L10 FAM120C WNK3 ALAS2 MIR98 USP51 MIR6857 FAM156B SNORA11 PAGE5 GPR173 MIRLET7F2 MAGEH1 HUWE1 PAGE2B PFKFB1 FAM104B KDM5C HSD17B10 PAGE2 FOXR2 MAGED2 APEX2 FAM156A MIR6895 XAGE3 KANTR MIR4536-2 GNL3L TRO SMC1A PAGE3 IQSEC2 MIR4536-1 RIBC1 SNORA109 ITIH6 PHF8 TSPYL2 FGD1 LOC100421746 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIR6894 TSR2 MTRNR2L10 FAM120C WNK3 ALAS2 MIR98 USP51 MIR6857 FAM156B SNORA11 PAGE5 GPR173 MIRLET7F2 MAGEH1 HUWE1 PAGE2B PFKFB1 FAM104B KDM5C HSD17B10 PAGE2 FOXR2 MAGED2 APEX2 FAM156A MIR6895 XAGE3 KANTR MIR4536-2 GNL3L TRO SMC1A PAGE3 IQSEC2 MIR4536-1 RIBC1 SNORA109 ITIH6 PHF8 TSPYL2 FGD1 LOC100421746 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |