Assay Details
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: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SHMT2 | NM_001166356.1 | 7 | 1001 | NP_001159828.1 |
NM_001166357.1 | 7 | 1093 | NP_001159829.1 | |
NM_001166358.1 | 7 | 992 | NP_001159830.1 | |
NM_001166359.1 | 7 | 885 | NP_001159831.1 | |
NM_005412.5 | 7 | 1031 | NP_005403.2 | |
NR_029415.1 | 6 | 833 | ||
NR_029416.1 | 6 | 912 | ||
NR_029417.1 | 6 | 951 | ||
NR_048562.1 | 6 | 1041 | ||
XM_011538675.2 | 7 | 971 | XP_011536977.1 | |
XM_011538676.2 | 7 | 962 | XP_011536978.1 | |
XM_011538677.2 | 6 | 872 | XP_011536979.1 | |
XM_011538678.2 | 6 | 854 | XP_011536980.1 | |
AK055053.1 | 4 | 1681 | ||
AK223555.1 | 7 | 893 | BAD97275.1 | |
AK295941.1 | 6 | 782 | ||
AK296183.1 | 7 | 845 | ||
AK297173.1 | 6 | 793 | ||
AK298231.1 | 6 | 686 | ||
AK301339.1 | 7 | 758 | ||
AK301443.1 | 6 | 855 | ||
AK303827.1 | 6 | 707 | ||
AK315916.1 | 7 | 1085 | ||
BC011911.2 | 7 | 835 | AAH11911.1 | |
BC013677.2 | 7 | 895 | AAH13677.1 | |
BC032584.1 | 7 | 874 | AAH32584.1 | |
BC044211.1 | 7 | 871 | AAH44211.1 | |
BC091501.1 | 6 | 755 | AAH91501.1 | |
BT006866.1 | 7 | 825 | AAP35512.1 | |
BX647711.1 | 7 | 952 | CAI46021.1 | |
BX648847.1 | 5 | 433 | ||
EU668344.1 | 7 | 835 | ||
KU178333.1 | 7 | 825 | ||
KU178334.1 | 6 | 461 | ||
L11932.1 | 6 | 736 | AAA63258.1 |
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 | PRIM1 MIP CS R3HDM2 BAZ2A NACA SDR9C7 TAC3 DCTN2 MIR1228 LOC101927583 SNORD59B RDH16 MBD6 RNF41 ATP5B GLS2 NABP2 PIP4K2C B4GALNT1 MIR6758 MIR616 RBMS2 GLI1 HBCBP PTGES3 APOF STAT2 ARHGAP9 ARHGEF25 NXPH4 STAT6 SLC39A5 IL23A SLC26A10 HSD17B6 MYO1A KIF5A ANKRD52 INHBE CNPY2 DTX3 SHMT2 COQ10A MARS TIMELESS SNORA105C LRP1-AS NEMP1 GPR182 INHBC NDUFA4L2 STAC3 NAB2 SPRYD4 DDIT3 SNORD59A LRP1 PAN2 OS9 ZBTB39 |
nsv519293 | Chr.12:57189889 - 57243810 on Build GRCh38 | Loss | NDUFA4L2 STAC3 SHMT2 NXPH4 MIR1228 LRP1 |
nsv952189 | Chr.12:57127118 - 57245617 on Build GRCh38 | Deletion | NDUFA4L2 STAC3 SHMT2 NXPH4 MIR1228 LRP1 LRP1-AS |
dgv96n21 | Chr.12:57139199 - 57243810 on Build GRCh38 | Loss | NDUFA4L2 STAC3 SHMT2 NXPH4 MIR1228 LRP1 LRP1-AS |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |