Assay Details
Target Gene Details
Entrez Gene ID: | 3270 |
Gene Name: | histidine rich calcium binding protein |
Gene Aliases: |
- |
Location: |
Chr.19:49151198-49155443 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 4 - Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HRC | NM_002152.2 | NP_002143.1 | ||
BC069795.1 | AAH69795.1 | |||
BC069802.1 | AAH69802.1 | |||
BC094691.1 | AAH94691.1 | |||
BC112355.1 | AAI12356.1 | |||
M60052.1 | AAA88071.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470149 | Chr.19:49129515 - 49155110 on Build GRCh38 | Loss | PPFIA3 HRC |
nsv833859 | Chr.19:48997009 - 49173266 on Build GRCh38 | Loss | MIR6798 LIN7B SNRNP70 CGB2 CGB8 CGB3 CGB1 CGB7 NTF4 SNAR-G1 SNAR-G2 PPFIA3 LHB C19orf73 TRPM4 KCNA7 CGB5 RUVBL2 LOC101059948 HRC |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | SNAR-A2 TSKS MIR4750 C19orf68 PTOV1-AS2 SPHK2 SNAR-C5 SNAR-A13 SPACA4 PTOV1-AS1 LOC105372430 SNRNP70 MIR6800 NUCB1-AS1 NOSIP MAMSTR VRK3 CARD8-AS1 SNAR-A8 RUVBL2 MIR150 NUP62 BCL2L12 PRMT1 SNAR-C2 SNAR-A14 KDELR1 CGB8 SLC17A7 SNORD34 RCN3 SYNGR4 GYS1 LOC100287477 MIR4324 SNAR-B2 CPT1C SNORD35A KCNJ14 CGB5 PRRG2 CD37 SNAR-A6 SNAR-A12 IRF3 CARD8 PLA2G4C CGB3 ZNF473 MIR4751 CCDC114 ATF5 RPL13A FLT3LG TRPM4 DBP TULP2 LOC101928295 PLEKHA4 CA11 SEC1P PNKP SNAR-B1 MIR6798 SNAR-A1 SCAF1 LIN7B CABP5 CYTH2 CGB7 SNORD33 ELSPBP1 SNAR-D PPFIA3 C19orf73 FGF21 SNORD35B LMTK3 TEAD2 AP2A1 GFY SNAR-A3 SNAR-A10 SLC6A16 FTL SNAR-A11 CGB2 RRAS MIR4749 ALDH16A1 RASIP1 CGB1 DKKL1 SNAR-G1 NTN5 PTH2 FLJ26850 LHB MED25 FUT2 SIGLEC11 FCGRT LOC105447645 SNAR-C1 PTOV1 CCDC155 FUZ TMEM143 FAM83E KCNA7 SIGLEC16 ADM5 RPS11 RPL18 NUCB1 LOC101059948 LIG1 SNORD32A PIH1D1 DHDH ZNF114 PPP1R15A SNAR-C3 SNAR-C4 IZUMO1 IL4I1 NTF4 SNAR-A5 SNAR-A4 PLA2G4C-AS1 BAX MIR5088 SNAR-G2 GRWD1 HSD17B14 HRC GRIN2D EMP3 SULT2B1 BCAT2 FUT1 TBC1D17 AKT1S1 MIR6799 BSPH1 PRR12 SNAR-A9 SNAR-A7 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | LIN7B PPFIA3 SNRNP70 C19orf73 TRPM4 HRC |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | PPFIA3 TRPM4 HRC |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | LIN7B PPFIA3 C19orf73 TRPM4 HRC |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | LIN7B PPFIA3 C19orf73 TRPM4 HRC |
esv3644616 | Chr.19:49147706 - 49163844 on Build GRCh38 | Gain | PPFIA3 TRPM4 HRC |
dgv667e214 | Chr.19:49130606 - 49174364 on Build GRCh38 | Gain | PPFIA3 TRPM4 HRC |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |