Assay Details
Target Gene Details
Entrez Gene ID: | 93627 |
Gene Name: | TBC1 domain containing kinase |
Gene Aliases: |
HSPC302, IHPRF3, TBCKL |
Location: |
Chr.4:106044317-106316704 on Build GRCh38 |
Assay Gene Location: | Within Exon 28 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TBCK | NM_001163435.2 | 24 | 2715 | NP_001156907.1 |
NM_001163436.2 | 24 | 2536 | NP_001156908.1 | |
NM_001163437.2 | 24 | 2598 | NP_001156909.1 | |
NM_001290768.1 | 25 | 2816 | NP_001277697.1 | |
NM_033115.4 | 22 | 2526 | NP_149106.2 | |
XM_011532417.2 | 24 | 2635 | XP_011530719.1 | |
XM_017008846.1 | 24 | 2719 | XP_016864335.1 | |
XM_017008847.1 | 23 | 2379 | XP_016864336.1 | |
XM_017008848.1 | 24 | 2391 | XP_016864337.1 | |
XM_017008849.1 | 22 | 2202 | XP_016864338.1 | |
AB449876.1 | 23 | 2350 | ||
AF161420.1 | 12 | 1192 | AAF28980.1 | |
AK074305.1 | 24 | 2470 | BAB85045.1 | |
AK098157.1 | 15 | 2003 | BAC05244.1 | |
AK315571.1 | 24 | 2658 | ||
BC009208.2 | 22 | 2488 | AAH09208.2 | |
BC020853.2 | 5 | 531 | AAH20853.2 | |
BC068496.1 | 24 | 2539 | AAH68496.1 | |
BX647851.1 | 26 | 2760 | CAI46102.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv511247 | Chr.4:106101545 - 106144063 on Build GRCh38 | Gain | TBCK |
esv3601673 | Chr.4:106102808 - 106127774 on Build GRCh38 | Gain | TBCK |
nsv1000196 | Chr.4:103475625 - 106148054 on Build GRCh38 | Loss | LOC101929468 LOC101929529 TBCK TACR3 CXXC4 TET2-AS1 GSTCD TET2 ARHGEF38 NPNT LOC101929577 PPA2 INTS12 ARHGEF38-IT1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |