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