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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SHMT2 | NM_001166356.1 | 2 | 288 | NP_001159828.1 |
NM_001166357.1 | 2 | 350 | NP_001159829.1 | |
NM_001166358.1 | 2 | 249 | NP_001159830.1 | |
NM_001166359.1 | 2 | 142 | NP_001159831.1 | |
NM_005412.5 | 2 | 288 | NP_005403.2 | |
NR_029415.1 | 2 | 142 | ||
NR_029416.1 | 2 | 249 | ||
NR_029417.1 | 2 | 288 | ||
NR_048562.1 | 2 | 350 | ||
XM_011538675.2 | 2 | 200 | XP_011536977.1 | |
XM_011538676.2 | 2 | 191 | XP_011536978.1 | |
XM_011538677.2 | 2 | 181 | XP_011536979.1 | |
XM_011538678.2 | 2 | 163 | XP_011536980.1 | |
AK055053.1 | 2 | 150 | ||
AK223555.1 | 2 | 150 | BAD97275.1 | |
AK295941.1 | 2 | 119 | ||
AK296183.1 | 2 | 102 | ||
AK297173.1 | 2 | 102 | ||
AK298231.1 | 2 | 150 | ||
AK301339.1 | 2 | 150 | ||
AK301443.1 | 2 | 192 | ||
AK303827.1 | 2 | 150 | ||
AK315916.1 | 2 | 342 | ||
BC011911.2 | 2 | 92 | AAH11911.1 | |
BC013677.2 | 2 | 152 | AAH13677.1 | |
BC032584.1 | 2 | 161 | AAH32584.1 | |
BC044211.1 | 2 | 128 | AAH44211.1 | |
BC091501.1 | 2 | 92 | AAH91501.1 | |
BT006866.1 | 2 | 82 | AAP35512.1 | |
BX647711.1 | 2 | 209 | CAI46021.1 | |
BX648847.1 | ||||
CN395976.1 | 2 | 144 | ||
DA052422.1 | 2 | 254 | ||
DC339924.1 | 2 | 350 | ||
DC386590.1 | 2 | 289 | ||
EU668344.1 | 2 | 92 | ||
KU178333.1 | 2 | 82 | ||
KU178334.1 | ||||
L11932.1 | 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 | SPRYD4 SLC26A10 ARHGAP9 MIR1228 LOC101927583 SNORD59A MIR616 APOF IL23A RNF41 INHBC NABP2 R3HDM2 MARS LRP1-AS SLC39A5 OS9 STAT6 STAT2 DTX3 TAC3 ZBTB39 LRP1 NXPH4 PRIM1 ATP5B PIP4K2C SNORA105C SHMT2 KIF5A NEMP1 DCTN2 MIR6758 CS SDR9C7 MBD6 PTGES3 GPR182 INHBE ANKRD52 RBMS2 NAB2 ARHGEF25 COQ10A DDIT3 GLS2 CNPY2 MYO1A GLI1 PAN2 STAC3 BAZ2A B4GALNT1 NDUFA4L2 TIMELESS MIP HSD17B6 RDH16 HBCBP SNORD59B NACA |
nsv519293 | Chr.12:57189889 - 57243810 on Build GRCh38 | Loss | SHMT2 STAC3 NDUFA4L2 LRP1 MIR1228 NXPH4 |
nsv952189 | Chr.12:57127118 - 57245617 on Build GRCh38 | Deletion | LRP1-AS SHMT2 STAC3 NDUFA4L2 LRP1 MIR1228 NXPH4 |
dgv96n21 | Chr.12:57139199 - 57243810 on Build GRCh38 | Loss | LRP1-AS SHMT2 STAC3 NDUFA4L2 LRP1 MIR1228 NXPH4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |