Assay Details
Target Gene Details
Entrez Gene ID: | 506 |
Gene Name: | ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide |
Gene Aliases: |
ATPMB, ATPSB, HEL-S-271 |
Location: |
Chr.12:56638175-56646068 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP5B | NM_001686.3 | 9 | 1451 | NP_001677.2 |
AK291085.1 | 9 | 1367 | ||
BC016512.1 | 9 | 1356 | AAH16512.1 | |
DQ403107.1 | 8 | 1154 | ||
FJ224288.1 | 9 | 1451 | ||
X05606.1 | 5 | 695 | CAA29095.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv482992 | Chr.12:56206217 - 57706217 on Build GRCh38 | Gain+Loss | GLS2 SHMT2 TAC3 DTX3 NACA PTGES3 SNORD59B IL23A MYO1A ARHGEF25 SNORD59A SNORA105C SPRYD4 SLC39A5 OS9 MBD6 CNPY2 PIP4K2C INHBC LOC101927583 MIP COQ10A BAZ2A MARS SDR9C7 ARHGAP9 R3HDM2 INHBE STAT6 HSD17B6 STAT2 DDIT3 PRIM1 NDUFA4L2 NXPH4 PAN2 TIMELESS NABP2 CS GPR182 LRP1-AS MIR6758 NAB2 DCTN2 RDH16 MIR616 STAC3 ATP5B LRP1 B4GALNT1 KIF5A ANKRD52 APOF RBMS2 MIR1228 SLC26A10 RNF41 GLI1 NEMP1 HBCBP ZBTB39 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |