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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HRC | NM_002152.2 | NP_002143.1 | ||
XM_017026733.1 | XP_016882222.1 | |||
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 | PPFIA3 NTF4 CGB1 CGB2 TRPM4 LOC101059948 CGB5 SNAR-G1 SNRNP70 HRC MIR6798 LIN7B RUVBL2 SNAR-G2 CGB8 LHB C19orf73 CGB7 CGB3 KCNA7 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | CGB2 MED25 SNORD35A FAM83E CARD8 PTOV1-AS1 SNAR-A5 SNAR-A2 CA11 ADM5 RUVBL2 TEAD2 RPL18 PRRG2 LHB NTN5 LOC105372430 CCDC155 PLEKHA4 IZUMO1 MIR4750 SNAR-C4 IL4I1 LOC101059948 CGB5 DHDH RPS11 EMP3 SNAR-G1 RRAS FCGRT LOC100287477 BCAT2 ZNF114 CCDC114 FUZ SPACA4 MIR150 PTOV1 SLC6A16 SNAR-G2 FLJ26850 RPL13A VRK3 HSD17B14 KCNA7 SNAR-A8 CARD8-AS1 SNAR-B1 SLC17A7 SNAR-C3 SNAR-C5 SULT2B1 ATF5 CGB8 SNAR-B2 MIR5088 RCN3 LIG1 MIR4324 CYTH2 PRR12 KCNJ14 SNAR-A6 GRWD1 SEC1P AP2A1 CD37 PTOV1-AS2 PLA2G4C SNAR-A3 SNORD32A SNAR-A13 ELSPBP1 PIH1D1 FTL LMTK3 SNRNP70 MAMSTR SNAR-A12 MIR6798 TMEM143 SNAR-A14 NOSIP NUCB1 ZNF473 CPT1C CGB7 GYS1 AKT1S1 TULP2 BAX SNAR-A10 CGB1 GFY SYNGR4 GRIN2D MIR6800 MIR6799 SNAR-A4 DBP RASIP1 SNAR-D SCAF1 FGF21 CGB3 LOC101928295 PPFIA3 NUCB1-AS1 PNKP PLA2G4C-AS1 TBC1D17 TSKS C19orf68 PTH2 MIR4751 SNORD35B CABP5 SNAR-C1 SIGLEC11 KDELR1 LOC105447645 FLT3LG C19orf73 PPP1R15A FUT2 ALDH16A1 BSPH1 NTF4 BCL2L12 SNORD34 SNAR-A7 TRPM4 SNORD33 HRC SNAR-A11 SNAR-A9 FUT1 DKKL1 LIN7B SNAR-A1 NUP62 SIGLEC16 SNAR-C2 MIR4749 SPHK2 IRF3 PRMT1 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | LIN7B PPFIA3 TRPM4 SNRNP70 HRC C19orf73 |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | PPFIA3 TRPM4 HRC |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | LIN7B PPFIA3 TRPM4 HRC C19orf73 |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | LIN7B PPFIA3 TRPM4 HRC C19orf73 |
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 Non-exonic DGV Variation |