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 3 - Exon 4 |
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 | CGB8 C19orf73 NTF4 SNRNP70 MIR6798 CGB1 RUVBL2 SNAR-G2 KCNA7 LHB LOC101059948 CGB5 CGB3 SNAR-G1 HRC LIN7B TRPM4 CGB2 PPFIA3 CGB7 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | CCDC114 BAX AKT1S1 ATF5 SNAR-G1 MIR5088 RCN3 CARD8-AS1 GFY CGB2 RASIP1 SNAR-A10 SLC6A16 PPFIA3 SNAR-A8 SULT2B1 PLA2G4C KCNA7 CD37 DKKL1 LHB LOC101059948 GYS1 C19orf68 PRMT1 FUT2 SNAR-A7 NUP62 FAM83E PLEKHA4 NUCB1 NUCB1-AS1 SIGLEC11 SNAR-A2 PPP1R15A CGB8 ELSPBP1 CARD8 TEAD2 PRRG2 SNAR-C2 SNAR-D LOC100287477 MIR6798 MIR6800 PTOV1-AS1 SCAF1 PRR12 IRF3 SNAR-C5 SNAR-A9 BCL2L12 TRPM4 MIR150 TULP2 MIR4750 ALDH16A1 SNAR-A1 IL4I1 SYNGR4 SNAR-G2 VRK3 EMP3 SNAR-A3 SNAR-A13 LMTK3 PTOV1 GRIN2D SNAR-A12 SNAR-B1 ZNF114 PTH2 SNAR-C3 MIR6799 PNKP RPL13A DHDH LOC105372430 FLJ26850 SNORD35A RPL18 CPT1C CYTH2 SIGLEC16 MAMSTR SNORD33 IZUMO1 TBC1D17 LOC101928295 PTOV1-AS2 MED25 SNAR-A14 SEC1P C19orf73 SNORD34 DBP BSPH1 NTF4 SNAR-A6 TSKS MIR4324 TMEM143 SNAR-A5 RUVBL2 SNAR-B2 SPHK2 CABP5 NOSIP RRAS ZNF473 HSD17B14 SNAR-C4 SNORD32A LOC105447645 CGB7 MIR4751 RPS11 AP2A1 LIG1 SNAR-A4 SLC17A7 CGB5 PIH1D1 FUT1 MIR4749 LIN7B FGF21 KDELR1 CA11 ADM5 SPACA4 GRWD1 PLA2G4C-AS1 SNAR-C1 SNRNP70 SNORD35B CGB1 FCGRT CCDC155 NTN5 FTL FLT3LG CGB3 HRC FUZ BCAT2 KCNJ14 SNAR-A11 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | C19orf73 HRC LIN7B SNRNP70 TRPM4 PPFIA3 |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | HRC TRPM4 PPFIA3 |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | C19orf73 HRC LIN7B TRPM4 PPFIA3 |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | C19orf73 HRC LIN7B TRPM4 PPFIA3 |
esv3644616 | Chr.19:49147706 - 49163844 on Build GRCh38 | Gain | HRC TRPM4 PPFIA3 |
dgv667e214 | Chr.19:49130606 - 49174364 on Build GRCh38 | Gain | HRC TRPM4 PPFIA3 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |