Assay Details
Target Gene Details
Entrez Gene ID: | 7942 |
Gene Name: | transcription factor EB |
Gene Aliases: |
ALPHATFEB, BHLHE35, TCFEB |
Location: |
Chr.6:41683978-41736259 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TFEB | NM_001167827.2 | 9 | 1153 | NP_001161299.2 |
NM_001271943.1 | 8 | 962 | NP_001258872.1 | |
NM_001271944.1 | 9 | 1217 | NP_001258873.1 | |
NM_001271945.1 | 9 | 1128 | NP_001258874.1 | |
NM_007162.2 | 10 | 1319 | NP_009093.1 | |
XM_005249411.1 | 9 | 1252 | XP_005249468.1 | |
XM_005249412.1 | 9 | 1144 | XP_005249469.1 | |
XM_006715212.3 | 9 | 1371 | XP_006715275.1 | |
XM_006715213.2 | 9 | 1195 | XP_006715276.1 | |
XM_011514915.1 | 9 | 1374 | XP_011513217.1 | |
XM_011514916.2 | 10 | 1164 | XP_011513218.1 | |
AJ608786.1 | 9 | 1153 | CAE77681.1 | |
AK298390.1 | 9 | 1138 | ||
BC006225.2 | 7 | 591 | AAH06225.2 | |
BC032448.1 | 10 | 1319 | AAH32448.1 | |
M33782.1 | 9 | 1299 | AAA36730.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2759422 | Chr.6:41621051 - 41731715 on Build GRCh38 | Loss | MDFI TFEB |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |