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 | 2061 | NP_001159828.1 |
NM_001166357.1 | 12 | 2153 | NP_001159829.1 | |
NM_001166358.1 | 12 | 2052 | NP_001159830.1 | |
NM_001166359.1 | 12 | 1945 | NP_001159831.1 | |
NM_005412.5 | 12 | 2091 | NP_005403.2 | |
NR_029415.1 | 11 | 1893 | ||
NR_029416.1 | 11 | 1972 | ||
NR_029417.1 | 11 | 2011 | ||
NR_048562.1 | 11 | 2101 | ||
XM_011538675.2 | XP_011536977.1 | |||
XM_011538676.2 | XP_011536978.1 | |||
XM_011538677.2 | 11 | 1932 | XP_011536979.1 | |
XM_011538678.2 | 11 | 1914 | XP_011536980.1 | |
AK055053.1 | ||||
AK223555.1 | BAD97275.1 | |||
AK297173.1 | 11 | 1853 | ||
AK303827.1 | ||||
AK315916.1 | ||||
BC011911.2 | 12 | 1895 | AAH11911.1 | |
BC013677.2 | AAH13677.1 | |||
BC032584.1 | AAH32584.1 | |||
BC044211.1 | AAH44211.1 | |||
BC091501.1 | 11 | 1815 | AAH91501.1 | |
BX647711.1 | CAI46021.1 | |||
BX648847.1 | ||||
EU668344.1 | 12 | 1895 | ||
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 | LOC101927583 SHMT2 INHBC RNF41 ZBTB39 MIP TAC3 MYO1A TIMELESS CNPY2 HSD17B6 SPRYD4 COQ10A OS9 PAN2 KIF5A DDIT3 SLC26A10 MIR1228 MIR616 NEMP1 NAB2 GPR182 RDH16 GLS2 APOF ANKRD52 MBD6 PTGES3 STAT2 DTX3 NACA ATP5B STAC3 CS HBCBP MIR6758 NABP2 BAZ2A SLC39A5 ARHGAP9 GLI1 SNORA105C RBMS2 LRP1-AS IL23A STAT6 B4GALNT1 ARHGEF25 SNORD59B DCTN2 NXPH4 NDUFA4L2 PIP4K2C R3HDM2 PRIM1 INHBE SDR9C7 LRP1 SNORD59A MARS |
nsv519293 | Chr.12:57189889 - 57243810 on Build GRCh38 | Loss | NXPH4 SHMT2 NDUFA4L2 MIR1228 LRP1 STAC3 |
nsv952189 | Chr.12:57127118 - 57245617 on Build GRCh38 | Deletion | NXPH4 SHMT2 NDUFA4L2 MIR1228 LRP1 LRP1-AS STAC3 |
dgv96n21 | Chr.12:57139199 - 57243810 on Build GRCh38 | Loss | NXPH4 SHMT2 NDUFA4L2 MIR1228 LRP1 LRP1-AS STAC3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |