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: | Overlaps - Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFA4L2 | NM_020142.3 | NP_064527.1 | ||
XM_005269033.2 | XP_005269090.1 | |||
XM_011538573.2 | XP_011536875.1 | |||
AF164796.1 | AAF80760.1 | |||
AK094275.1 | ||||
AK129629.1 | ||||
BC011910.2 | AAH11910.1 |
Target Gene Details
Entrez Gene ID: | 6472 |
Gene Name: | serine hydroxymethyltransferase 2 |
Gene Aliases: |
GLYA, HEL-S-51e, SHMT |
Location: |
Chr.12:57229573-57234935 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SHMT2 | NM_001166356.1 | NP_001159828.1 | ||
NM_001166357.1 | NP_001159829.1 | |||
NM_001166358.1 | NP_001159830.1 | |||
NM_001166359.1 | NP_001159831.1 | |||
NM_005412.5 | NP_005403.2 | |||
NR_029415.1 | ||||
NR_029416.1 | ||||
NR_029417.1 | ||||
NR_048562.1 | ||||
XM_011538677.2 | XP_011536979.1 | |||
XM_011538678.2 | XP_011536980.1 | |||
BC011911.2 | AAH11911.1 | |||
BC091501.1 | AAH91501.1 | |||
EU668344.1 |
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 | PIP4K2C ARHGEF25 SNORD59A RDH16 NXPH4 NACA KIF5A SLC26A10 TAC3 INHBC ANKRD52 STAT2 DDIT3 CS ZBTB39 GLI1 SPRYD4 PTGES3 INHBE HBCBP MBD6 B4GALNT1 APOF MIR6758 RBMS2 ATP5B MYO1A SNORD59B NEMP1 LOC101927583 GPR182 DCTN2 TIMELESS NABP2 SDR9C7 GLS2 PAN2 PRIM1 MARS MIP BAZ2A OS9 LRP1-AS STAC3 SLC39A5 MIR1228 LRP1 SNORA105C SHMT2 MIR616 DTX3 COQ10A IL23A CNPY2 R3HDM2 NDUFA4L2 RNF41 HSD17B6 ARHGAP9 STAT6 NAB2 |
nsv519293 | Chr.12:57189889 - 57243810 on Build GRCh38 | Loss | SHMT2 STAC3 MIR1228 LRP1 NDUFA4L2 NXPH4 |
nsv952189 | Chr.12:57127118 - 57245617 on Build GRCh38 | Deletion | LRP1-AS SHMT2 STAC3 MIR1228 LRP1 NDUFA4L2 NXPH4 |
dgv96n21 | Chr.12:57139199 - 57243810 on Build GRCh38 | Loss | LRP1-AS SHMT2 STAC3 MIR1228 LRP1 NDUFA4L2 NXPH4 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |