Assay Details
Target Gene Details
Entrez Gene ID: | 113091 |
Gene Name: | parathyroid hormone 2 |
Gene Aliases: |
TIP39 |
Location: |
Chr.19:49422414-49423441 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTH2 | NM_178449.3 | 2 | 366 | NP_848544.1 |
AY037555.1 | 2 | 366 | AAK68689.1 | |
AY048588.1 | AAL06597.1 | |||
BC093995.1 | 2 | 305 | AAH93995.1 | |
BC093997.1 | 2 | 309 | AAH93997.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | ALDH16A1 NUCB1-AS1 FLT3LG SNAR-D CGB5 SNAR-A12 SNAR-A9 FUZ PRRG2 BAX PIH1D1 LOC105447645 CGB7 SNORD32A MIR4750 GYS1 SNAR-C4 RCN3 SNAR-A11 MIR5088 RPL18 CYTH2 FTL LOC101059948 CCDC155 ELSPBP1 BSPH1 ZNF473 SNAR-C2 FAM83E RRAS GRWD1 CARD8 SEC1P ATF5 AP2A1 SCAF1 TBC1D17 SNORD34 SNAR-A13 SNAR-A10 CA11 TEAD2 NTF4 RASIP1 SNAR-A2 MAMSTR SNAR-A14 SNAR-A4 NOSIP SNAR-A7 HSD17B14 SNAR-B1 MIR6800 SNAR-A5 VRK3 CGB1 TRPM4 CPT1C EMP3 FUT2 RPS11 MIR4749 FGF21 PTOV1 SNRNP70 MIR6799 SNAR-G2 LMTK3 SNAR-B2 LIG1 SNAR-C5 SNORD33 LOC100287477 LIN7B BCAT2 CGB2 MIR4751 FLJ26850 IZUMO1 PPP1R15A C19orf68 CGB8 SPHK2 FCGRT PNKP CGB3 DKKL1 SNAR-G1 PTOV1-AS1 SNORD35B PLEKHA4 PTH2 GRIN2D ADM5 IRF3 RPL13A IL4I1 SNORD35A ZNF114 PLA2G4C KCNJ14 RUVBL2 LHB NUCB1 KCNA7 DBP NTN5 SLC17A7 TMEM143 AKT1S1 BCL2L12 GFY CARD8-AS1 SNAR-C1 SNAR-A6 SPACA4 CABP5 PRR12 SNAR-A1 PLA2G4C-AS1 TSKS PPFIA3 PTOV1-AS2 SYNGR4 FUT1 MIR6798 KDELR1 TULP2 SULT2B1 SIGLEC11 MIR4324 CCDC114 C19orf73 PRMT1 NUP62 CD37 SIGLEC16 LOC101928295 SNAR-C3 SNAR-A3 MIR150 MED25 HRC SNAR-A8 SLC6A16 LOC105372430 DHDH |
dgv52n68 | Chr.19:49286685 - 49456131 on Build GRCh38 | Loss | ALDH16A1 CCDC155 SLC17A7 LOC101928295 PTH2 TEAD2 MIR4324 GFY PIH1D1 SLC6A16 DKKL1 CD37 |
nsv953599 | Chr.19:49386444 - 49506743 on Build GRCh38 | Deletion | ALDH16A1 CCDC155 FLT3LG PIH1D1 SNORD33 SNORD32A SNORD34 SNORD35B SLC17A7 LOC101928295 PTH2 RPS11 MIR150 GFY RPL13A SNORD35A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |