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 | 8383 | NP_001268392.1 |
NM_006306.3 | 25 | 8237 | NP_006297.2 | |
AK055575.1 | 2 | 1433 | ||
AK056308.1 | 1 | 475 | ||
AK091458.1 | 1 | 2334 |
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 | MIR98 MIR6894 SNORA11 IQSEC2 PAGE2B HSD17B10 HUWE1 MIR4536-2 GNL3L FAM156B KDM5C PHF8 USP51 SMC1A MIR6895 MIR4536-1 SNORA109 MIR6857 PFKFB1 MTRNR2L10 TSR2 PAGE3 ITIH6 PAGE2 FOXR2 TRO WNK3 FAM120C KANTR GPR173 MAGEH1 FGD1 RIBC1 TSPYL2 ALAS2 MIRLET7F2 XAGE3 FAM104B PAGE5 MAGED2 FAM156A LOC100421746 APEX2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIR98 MIR6894 SNORA11 IQSEC2 PAGE2B HSD17B10 HUWE1 MIR4536-2 GNL3L FAM156B KDM5C PHF8 USP51 SMC1A MIR6895 MIR4536-1 SNORA109 MIR6857 PFKFB1 MTRNR2L10 TSR2 PAGE3 ITIH6 PAGE2 FOXR2 TRO WNK3 FAM120C KANTR GPR173 MAGEH1 FGD1 RIBC1 TSPYL2 ALAS2 MIRLET7F2 XAGE3 FAM104B PAGE5 MAGED2 FAM156A LOC100421746 APEX2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |