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 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SHMT2 | NM_001166356.1 | 12 | 1828 | NP_001159828.1 |
NM_001166357.1 | 12 | 1920 | NP_001159829.1 | |
NM_001166358.1 | 12 | 1819 | NP_001159830.1 | |
NM_001166359.1 | 12 | 1712 | NP_001159831.1 | |
NM_005412.5 | 12 | 1858 | NP_005403.2 | |
NR_029415.1 | 11 | 1660 | ||
NR_029416.1 | 11 | 1739 | ||
NR_029417.1 | 11 | 1778 | ||
NR_048562.1 | 11 | 1868 | ||
XM_011538675.2 | 12 | 1798 | XP_011536977.1 | |
XM_011538676.2 | 12 | 1789 | XP_011536978.1 | |
XM_011538677.2 | 11 | 1699 | XP_011536979.1 | |
XM_011538678.2 | 11 | 1681 | XP_011536980.1 | |
AK055053.1 | 6 | 3184 | ||
AK223555.1 | 12 | 1720 | BAD97275.1 | |
AK295941.1 | 11 | 1714 | ||
AK296183.1 | ||||
AK297173.1 | 11 | 1620 | ||
AK301339.1 | ||||
AK301443.1 | ||||
AK303827.1 | 11 | 1534 | ||
AK315916.1 | 12 | 1912 | ||
BC011911.2 | 12 | 1662 | AAH11911.1 | |
BC013677.2 | 12 | 1722 | AAH13677.1 | |
BC032584.1 | 12 | 1701 | AAH32584.1 | |
BC044211.1 | 12 | 1698 | AAH44211.1 | |
BC091501.1 | 11 | 1582 | AAH91501.1 | |
BX647711.1 | 12 | 1779 | CAI46021.1 | |
BX648847.1 | 10 | 1260 | ||
EU668344.1 | 12 | 1662 | ||
L11932.1 | 11 | 1563 | 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 | PIP4K2C MIR616 TAC3 LRP1 MIR1228 RDH16 DTX3 ARHGEF25 R3HDM2 MIR6758 NEMP1 HSD17B6 INHBC TIMELESS STAT2 NAB2 SNORD59A GLI1 OS9 GLS2 PTGES3 ATP5B IL23A CNPY2 HBCBP CS B4GALNT1 STAT6 NDUFA4L2 STAC3 RBMS2 SNORD59B BAZ2A SLC26A10 ANKRD52 SHMT2 NABP2 RNF41 ZBTB39 LOC101927583 ARHGAP9 PAN2 SLC39A5 MYO1A DCTN2 NACA KIF5A SNORA105C GPR182 LRP1-AS INHBE MBD6 NXPH4 DDIT3 APOF COQ10A PRIM1 MARS SPRYD4 SDR9C7 MIP |
nsv519293 | Chr.12:57189889 - 57243810 on Build GRCh38 | Loss | SHMT2 MIR1228 NDUFA4L2 STAC3 NXPH4 LRP1 |
nsv952189 | Chr.12:57127118 - 57245617 on Build GRCh38 | Deletion | SHMT2 MIR1228 NDUFA4L2 STAC3 LRP1-AS NXPH4 LRP1 |
dgv96n21 | Chr.12:57139199 - 57243810 on Build GRCh38 | Loss | SHMT2 MIR1228 NDUFA4L2 STAC3 LRP1-AS NXPH4 LRP1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |