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 Intron 3 |
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 | NP_659405.1 | |||
XM_005261988.3 | XP_005262045.1 | |||
XM_005261990.3 | XP_005262047.1 | |||
AK057345.1 | BAB71438.1 | |||
AK290346.1 | ||||
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 | USP51 XAGE3 FAM120C SMC1A MIR4536-1 PAGE2B MIR6895 PAGE2 MAGEH1 FAM104B FAM156B FAM156A PFKFB1 MIRLET7F2 IQSEC2 WNK3 FOXR2 HSD17B10 KANTR MIR98 TSR2 MIR6857 GPR173 HUWE1 GNL3L APEX2 TSPYL2 PAGE5 PAGE3 MAGED2 SNORA109 LOC100421746 ALAS2 RIBC1 KDM5C SNORA11 PHF8 ITIH6 MIR4536-2 TRO MIR6894 FGD1 MTRNR2L10 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | USP51 XAGE3 FAM120C SMC1A MIR4536-1 PAGE2B MIR6895 PAGE2 MAGEH1 FAM104B FAM156B FAM156A PFKFB1 MIRLET7F2 IQSEC2 WNK3 FOXR2 HSD17B10 KANTR MIR98 TSR2 MIR6857 GPR173 HUWE1 GNL3L APEX2 TSPYL2 PAGE5 PAGE3 MAGED2 SNORA109 LOC100421746 ALAS2 RIBC1 KDM5C SNORA11 PHF8 ITIH6 MIR4536-2 TRO MIR6894 FGD1 MTRNR2L10 |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | RIBC1 SMC1A HSD17B10 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |