Assay Details
Target Gene Details
Entrez Gene ID: | 56901 |
Gene Name: | NDUFA4, mitochondrial complex associated like 2 |
Gene Aliases: |
NUOMS |
Location: |
Chr.12:57234903-57240762 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFA4L2 | NM_020142.3 | 4 | 862 | NP_064527.1 |
XM_005269033.2 | 6 | 835 | XP_005269090.1 | |
XM_011538573.2 | 5 | 1477 | XP_011536875.1 | |
AF164796.1 | 4 | 607 | AAF80760.1 | |
AK094275.1 | 8 | 1692 | ||
AK129629.1 | 4 | 879 | ||
BC011910.2 | 4 | 862 | AAH11910.1 |
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 | NACA SLC39A5 CNPY2 INHBE PIP4K2C DCTN2 NABP2 SNORD59A ATP5B RNF41 SHMT2 SDR9C7 GLI1 SNORA105C APOF PAN2 B4GALNT1 PTGES3 INHBC SPRYD4 ARHGEF25 SLC26A10 R3HDM2 GLS2 MBD6 STAT2 STAC3 RBMS2 COQ10A NXPH4 OS9 LRP1 MIP MIR6758 NAB2 LOC101927583 NEMP1 HSD17B6 HBCBP SNORD59B LRP1-AS CS ARHGAP9 NDUFA4L2 BAZ2A RDH16 IL23A PRIM1 TAC3 MYO1A DDIT3 MIR1228 DTX3 TIMELESS STAT6 GPR182 MIR616 MARS ZBTB39 KIF5A ANKRD52 |
nsv519293 | Chr.12:57189889 - 57243810 on Build GRCh38 | Loss | NDUFA4L2 SHMT2 MIR1228 STAC3 NXPH4 LRP1 |
nsv952189 | Chr.12:57127118 - 57245617 on Build GRCh38 | Deletion | NDUFA4L2 SHMT2 MIR1228 STAC3 NXPH4 LRP1-AS LRP1 |
dgv96n21 | Chr.12:57139199 - 57243810 on Build GRCh38 | Loss | NDUFA4L2 SHMT2 MIR1228 STAC3 NXPH4 LRP1-AS LRP1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |