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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RIBC1 | NM_001031745.4 | 7 | 1128 | NP_001026915.1 |
NM_001267053.3 | 6 | 783 | NP_001253982.1 | |
XM_005261988.3 | 7 | 1336 | XP_005262045.1 | |
XM_005261990.3 | 6 | 857 | XP_005262047.1 | |
AI127598.1 | 2 | 376 | ||
AK292871.1 | 7 | 1083 | ||
AK304179.1 | 6 | 783 | ||
BC036767.1 | 7 | 1043 | AAH36767.1 | |
BF433577.1 | ||||
BM978850.1 | 2 | 394 | ||
CA433728.1 |
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 | TSR2 TRO ALAS2 GPR173 ITIH6 HSD17B10 SNORA109 MAGED2 TSPYL2 KDM5C MIR4536-2 MIR6857 PAGE2B MAGEH1 FAM156B APEX2 MTRNR2L10 PAGE5 FOXR2 MIR98 WNK3 MIR6894 PHF8 FAM120C HUWE1 SMC1A FGD1 FAM104B KANTR PAGE3 XAGE3 MIRLET7F2 FAM156A IQSEC2 USP51 SNORA11 PAGE2 GNL3L MIR4536-1 RIBC1 MIR6895 PFKFB1 LOC100421746 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | TSR2 TRO ALAS2 GPR173 ITIH6 HSD17B10 SNORA109 MAGED2 TSPYL2 KDM5C MIR4536-2 MIR6857 PAGE2B MAGEH1 FAM156B APEX2 MTRNR2L10 PAGE5 FOXR2 MIR98 WNK3 MIR6894 PHF8 FAM120C HUWE1 SMC1A FGD1 FAM104B KANTR PAGE3 XAGE3 MIRLET7F2 FAM156A IQSEC2 USP51 SNORA11 PAGE2 GNL3L MIR4536-1 RIBC1 MIR6895 PFKFB1 LOC100421746 |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | HSD17B10 RIBC1 SMC1A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |