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: | Overlaps Intron 23 - Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMC1A | NM_001281463.1 | NP_001268392.1 | ||
NM_006306.3 | NP_006297.2 | |||
BC112127.1 | AAI12128.1 | |||
D80000.2 | BAA11495.2 | |||
S78271.1 | AAB34405.1 |
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 | LOC100421746 PHF8 ITIH6 RIBC1 KANTR HUWE1 SMC1A PAGE3 MIR6894 GPR173 TRO PAGE2B GNL3L USP51 FAM156A PFKFB1 HSD17B10 MIR6857 XAGE3 KDM5C SNORA11 WNK3 FAM120C FOXR2 FAM104B APEX2 MIRLET7F2 PAGE2 TSR2 ALAS2 MAGEH1 TSPYL2 MIR98 MTRNR2L10 IQSEC2 MIR4536-2 FAM156B MIR4536-1 SNORA109 FGD1 MAGED2 MIR6895 PAGE5 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | LOC100421746 PHF8 ITIH6 RIBC1 KANTR HUWE1 SMC1A PAGE3 MIR6894 GPR173 TRO PAGE2B GNL3L USP51 FAM156A PFKFB1 HSD17B10 MIR6857 XAGE3 KDM5C SNORA11 WNK3 FAM120C FOXR2 FAM104B APEX2 MIRLET7F2 PAGE2 TSR2 ALAS2 MAGEH1 TSPYL2 MIR98 MTRNR2L10 IQSEC2 MIR4536-2 FAM156B MIR4536-1 SNORA109 FGD1 MAGED2 MIR6895 PAGE5 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |