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 | 9082 | NP_001268392.1 |
NM_006306.3 | 25 | 8936 | NP_006297.2 | |
AK055575.1 | 2 | 2132 | ||
AK056308.1 | 1 | 1174 | ||
AK091458.1 | 1 | 3033 |
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 | RIBC1 PAGE2B MIRLET7F2 XAGE3 MAGED2 USP51 MIR4536-1 GPR173 FAM104B MIR98 TSR2 APEX2 TRO IQSEC2 MIR4536-2 GNL3L KANTR HSD17B10 WNK3 SMC1A SNORA109 KDM5C PFKFB1 MIR6895 LOC100421746 TSPYL2 PHF8 FAM156A ALAS2 ITIH6 MIR6894 SNORA11 FGD1 MTRNR2L10 HUWE1 FAM120C MIR6857 PAGE2 FOXR2 PAGE5 PAGE3 FAM156B MAGEH1 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | RIBC1 PAGE2B MIRLET7F2 XAGE3 MAGED2 USP51 MIR4536-1 GPR173 FAM104B MIR98 TSR2 APEX2 TRO IQSEC2 MIR4536-2 GNL3L KANTR HSD17B10 WNK3 SMC1A SNORA109 KDM5C PFKFB1 MIR6895 LOC100421746 TSPYL2 PHF8 FAM156A ALAS2 ITIH6 MIR6894 SNORA11 FGD1 MTRNR2L10 HUWE1 FAM120C MIR6857 PAGE2 FOXR2 PAGE5 PAGE3 FAM156B MAGEH1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |