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 | 8924 | NP_001268392.1 |
NM_006306.3 | 25 | 8778 | NP_006297.2 | |
AK055575.1 | 2 | 1974 | ||
AK056308.1 | 1 | 1016 | ||
AK091458.1 | 1 | 2875 |
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 | PFKFB1 USP51 MIR4536-2 HUWE1 MIRLET7F2 KDM5C FGD1 SNORA11 PAGE2 PAGE5 MIR6895 MIR6857 LOC100421746 MIR6894 SMC1A FAM120C FOXR2 MIR98 GPR173 PAGE3 SNORA109 ITIH6 MAGEH1 PHF8 TRO MAGED2 TSR2 WNK3 ALAS2 FAM156B APEX2 MIR4536-1 FAM104B PAGE2B TSPYL2 MTRNR2L10 RIBC1 KANTR HSD17B10 XAGE3 FAM156A GNL3L IQSEC2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | PFKFB1 USP51 MIR4536-2 HUWE1 MIRLET7F2 KDM5C FGD1 SNORA11 PAGE2 PAGE5 MIR6895 MIR6857 LOC100421746 MIR6894 SMC1A FAM120C FOXR2 MIR98 GPR173 PAGE3 SNORA109 ITIH6 MAGEH1 PHF8 TRO MAGED2 TSR2 WNK3 ALAS2 FAM156B APEX2 MIR4536-1 FAM104B PAGE2B TSPYL2 MTRNR2L10 RIBC1 KANTR HSD17B10 XAGE3 FAM156A GNL3L IQSEC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |