Assay Details
Target Gene Details
Entrez Gene ID: | 158787 |
Gene Name: | RIB43A domain with coiled-coils 1 |
Gene Aliases: |
2610028I09Rik |
Location: |
Chr.X:53422782-53431120 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RIBC1 | NM_001031745.4 | NP_001026915.1 | ||
NM_001267053.3 | NP_001253982.1 | |||
NM_144968.3 | 5 | 985 | NP_659405.1 | |
XM_005261988.3 | XP_005262045.1 | |||
XM_005261990.3 | XP_005262047.1 | |||
AK057345.1 | 5 | 951 | BAB71438.1 | |
AK290346.1 | 5 | 935 | ||
AK292871.1 | ||||
AK304179.1 | ||||
BC036767.1 | AAH36767.1 | |||
CF272701.1 |
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 | MIRLET7F2 PAGE2 SMC1A ITIH6 MAGEH1 PAGE5 SNORA109 PAGE3 LOC100421746 ALAS2 KDM5C FAM120C FGD1 MIR4536-1 USP51 PAGE2B TSR2 HSD17B10 TSPYL2 MIR4536-2 MAGED2 MIR6857 SNORA11 FAM156B MIR6895 GPR173 FAM104B KANTR MTRNR2L10 FAM156A IQSEC2 PFKFB1 WNK3 TRO FOXR2 HUWE1 GNL3L PHF8 MIR98 MIR6894 APEX2 XAGE3 RIBC1 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIRLET7F2 PAGE2 SMC1A ITIH6 MAGEH1 PAGE5 SNORA109 PAGE3 LOC100421746 ALAS2 KDM5C FAM120C FGD1 MIR4536-1 USP51 PAGE2B TSR2 HSD17B10 TSPYL2 MIR4536-2 MAGED2 MIR6857 SNORA11 FAM156B MIR6895 GPR173 FAM104B KANTR MTRNR2L10 FAM156A IQSEC2 PFKFB1 WNK3 TRO FOXR2 HUWE1 GNL3L PHF8 MIR98 MIR6894 APEX2 XAGE3 RIBC1 |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | SMC1A HSD17B10 RIBC1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |