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 1 |
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 | 1 | 241 | XP_005262045.1 | |
XM_005261990.3 | XP_005262047.1 | |||
AK057345.1 | BAB71438.1 | |||
AK290346.1 | ||||
AK292871.1 | ||||
AK304179.1 | ||||
BC036767.1 | AAH36767.1 |
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 GPR173 IQSEC2 HUWE1 FAM104B ITIH6 GNL3L LOC100421746 FOXR2 PAGE3 FAM120C SMC1A MTRNR2L10 XAGE3 KDM5C MIR6857 PFKFB1 MIR6895 SNORA11 PAGE2 MIR98 TSR2 WNK3 SNORA109 FAM156B TSPYL2 HSD17B10 FAM156A FGD1 MAGED2 ALAS2 PAGE2B RIBC1 APEX2 USP51 PHF8 KANTR MIR4536-1 TRO MIR4536-2 MAGEH1 MIR6894 PAGE5 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIRLET7F2 GPR173 IQSEC2 HUWE1 FAM104B ITIH6 GNL3L LOC100421746 FOXR2 PAGE3 FAM120C SMC1A MTRNR2L10 XAGE3 KDM5C MIR6857 PFKFB1 MIR6895 SNORA11 PAGE2 MIR98 TSR2 WNK3 SNORA109 FAM156B TSPYL2 HSD17B10 FAM156A FGD1 MAGED2 ALAS2 PAGE2B RIBC1 APEX2 USP51 PHF8 KANTR MIR4536-1 TRO MIR4536-2 MAGEH1 MIR6894 PAGE5 |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | SMC1A HSD17B10 RIBC1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |