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