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 5 - Exon 6 |
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 | HRC PPFIA3 |
nsv833859 | Chr.19:48997009 - 49173266 on Build GRCh38 | Loss | C19orf73 SNAR-G2 TRPM4 RUVBL2 HRC CGB8 CGB5 LIN7B SNAR-G1 CGB3 MIR6798 LOC101059948 PPFIA3 CGB2 NTF4 KCNA7 CGB7 CGB1 LHB SNRNP70 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | LOC105372430 TRPM4 SLC17A7 SNAR-C2 MIR6798 MIR150 SNORD35A NTF4 SULT2B1 LMTK3 SNAR-A14 C19orf73 SNAR-G2 MED25 SIGLEC16 ALDH16A1 CGB5 LIN7B BCAT2 GFY TEAD2 FCGRT BAX SNAR-C4 KCNA7 PLEKHA4 CYTH2 RRAS SNAR-A2 KDELR1 TULP2 EMP3 SNAR-A5 IZUMO1 HSD17B14 SNAR-A8 CCDC155 PLA2G4C SNAR-A11 SNORD34 SPACA4 MAMSTR SYNGR4 SNORD32A LOC101928295 LIG1 SNAR-A13 AKT1S1 CCDC114 TSKS LOC105447645 FLJ26850 GRWD1 FUZ FLT3LG SNAR-B1 FGF21 RUVBL2 SLC6A16 MIR4751 SCAF1 PIH1D1 IRF3 PRRG2 RCN3 SNORD35B FAM83E PRMT1 NTN5 NUCB1 FTL BSPH1 SPHK2 ZNF114 PNKP RPS11 CA11 SNAR-A9 CARD8 KCNJ14 MIR6800 SNAR-G1 PTOV1 TBC1D17 C19orf68 GYS1 SNAR-A4 CABP5 MIR6799 SNAR-A3 MIR4750 TMEM143 DHDH NUP62 AP2A1 MIR4324 MIR4749 IL4I1 LOC101059948 PPFIA3 NOSIP FUT1 PTOV1-AS2 SNAR-B2 SNAR-C1 DBP SNAR-C5 CGB1 LHB RPL13A SNRNP70 HRC RPL18 CARD8-AS1 VRK3 SNAR-A1 CD37 SEC1P PRR12 ATF5 MIR5088 CGB2 ZNF473 SNAR-C3 ADM5 LOC100287477 SNAR-A12 CGB7 DKKL1 PLA2G4C-AS1 NUCB1-AS1 BCL2L12 ELSPBP1 RASIP1 PTH2 SNAR-A6 CPT1C CGB8 CGB3 SIGLEC11 FUT2 SNAR-A7 GRIN2D PTOV1-AS1 PPP1R15A SNAR-D SNAR-A10 SNORD33 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | C19orf73 TRPM4 HRC LIN7B PPFIA3 SNRNP70 |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | TRPM4 HRC PPFIA3 |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | C19orf73 TRPM4 HRC LIN7B PPFIA3 |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | C19orf73 TRPM4 HRC LIN7B PPFIA3 |
esv3644616 | Chr.19:49147706 - 49163844 on Build GRCh38 | Gain | TRPM4 HRC PPFIA3 |
dgv667e214 | Chr.19:49130606 - 49174364 on Build GRCh38 | Gain | TRPM4 HRC PPFIA3 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |