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 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP5B | NM_001686.3 | NP_001677.2 | ||
AK291085.1 | ||||
BC016512.1 | AAH16512.1 | |||
BI561028.1 | ||||
FJ224288.1 |
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 | IL23A MBD6 MIR1228 NDUFA4L2 TAC3 PIP4K2C SPRYD4 KIF5A HBCBP GPR182 INHBC SNORD59A MIR616 ARHGEF25 PRIM1 HSD17B6 SLC39A5 RDH16 APOF MIR6758 MIP DTX3 ARHGAP9 CNPY2 RNF41 GLI1 STAT2 R3HDM2 MYO1A DCTN2 NAB2 DDIT3 B4GALNT1 LRP1 CS GLS2 TIMELESS SLC26A10 ZBTB39 OS9 RBMS2 MARS NEMP1 SHMT2 ATP5B LOC101927583 SNORD59B BAZ2A NXPH4 LRP1-AS COQ10A PTGES3 SNORA105C NACA NABP2 INHBE STAC3 STAT6 PAN2 SDR9C7 ANKRD52 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |