Assay Details
Target Gene Details
Entrez Gene ID: | 152137 |
Gene Name: | coiled-coil domain containing 50 |
Gene Aliases: |
C3orf6, DFNA44, YMER |
Location: |
Chr.3:191329082-191398670 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CCDC50 | NM_174908.3 | NP_777568.1 | ||
NM_178335.2 | NP_848018.1 | |||
XM_011512460.1 | XP_011510762.1 | |||
AJ416916.2 | CAC95196.1 | |||
AJ557013.1 | CAD89526.1 | |||
BC065004.1 | AAH65004.1 |
Target Gene Details
Entrez Gene ID: | 257313 |
Gene Name: | urotensin 2B |
Gene Aliases: |
U2B, URP, UTS2D |
Location: |
Chr.3:191267155-191330536 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UTS2B | NM_198152.3 | NP_937795.2 | ||
AK090630.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv428428 | Chr.3:191219045 - 191497807 on Build GRCh38 | Gain | LINCR-0002 PYDC2 CCDC50 OSTN UTS2B OSTN-AS1 |
esv3599095 | Chr.3:191251629 - 191553437 on Build GRCh38 | Loss | LINCR-0002 PYDC2 CCDC50 OSTN UTS2B |
esv3599103 | Chr.3:191304692 - 191335341 on Build GRCh38 | Gain | CCDC50 UTS2B |
esv2759209 | Chr.3:191149222 - 191561318 on Build GRCh38 | Gain+Loss | LINCR-0002 PYDC2 CCDC50 OSTN UTS2B OSTN-AS1 |
nsv4169 | Chr.3:191318509 - 191345676 on Build GRCh38 | Deletion | CCDC50 UTS2B |
nsv998208 | Chr.3:191303645 - 191457561 on Build GRCh38 | Gain | LINCR-0002 CCDC50 UTS2B |
nsv10370 | Chr.3:191328434 - 191331771 on Build GRCh38 | Loss | CCDC50 UTS2B |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |