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: | Overlaps Intron 5 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP5B | NM_001686.3 | NP_001677.2 | ||
AK291085.1 | ||||
BC016512.1 | AAH16512.1 | |||
DQ403107.1 | ||||
FJ224288.1 | ||||
X05606.1 | 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 | SLC26A10 TIMELESS STAC3 APOF LRP1-AS PIP4K2C PAN2 CS NEMP1 MYO1A SNORA105C NXPH4 TAC3 INHBC KIF5A MBD6 NAB2 LOC101927583 SHMT2 MARS OS9 PRIM1 IL23A GLS2 SPRYD4 COQ10A ANKRD52 DTX3 PTGES3 NABP2 ZBTB39 STAT6 SLC39A5 MIR6758 SDR9C7 CNPY2 INHBE R3HDM2 HBCBP ARHGEF25 ARHGAP9 NACA RBMS2 LRP1 GPR182 BAZ2A MIP RDH16 GLI1 MIR616 B4GALNT1 SNORD59A HSD17B6 DCTN2 ATP5B DDIT3 SNORD59B STAT2 NDUFA4L2 RNF41 MIR1228 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |