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: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HRC | NM_002152.2 | 1 | 1529 | NP_002143.1 |
XM_017026733.1 | 1 | 1548 | XP_016882222.1 | |
AK300706.1 | 2 | 1429 | ||
BC069795.1 | 1 | 1512 | AAH69795.1 | |
BC069802.1 | 1 | 1512 | AAH69802.1 | |
BC094691.1 | 1 | 1529 | AAH94691.1 | |
BC112355.1 | 1 | 1494 | AAI12356.1 | |
M60052.1 | 1 | 1512 | 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 SNRNP70 C19orf73 CGB7 TRPM4 NTF4 CGB5 SNAR-G1 CGB3 HRC RUVBL2 SNAR-G2 LHB KCNA7 CGB1 LIN7B MIR6798 PPFIA3 LOC101059948 CGB2 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | SNAR-A12 SULT2B1 C19orf68 RRAS IZUMO1 GYS1 PLA2G4C-AS1 FAM83E NTF4 MIR4324 SPHK2 PTOV1-AS2 RUVBL2 FUT1 MIR150 SNAR-C3 SIGLEC11 AKT1S1 IRF3 LOC101928295 PLA2G4C NUCB1 GRWD1 SNAR-A8 EMP3 SEC1P PIH1D1 CA11 KDELR1 PNKP BCAT2 LHB LOC105447645 SNAR-A3 SNAR-A10 CGB1 TEAD2 CYTH2 LOC101059948 GFY SNAR-A14 PRRG2 CGB8 RCN3 SNAR-A4 CCDC155 BSPH1 LOC100287477 LOC105372430 FGF21 SNAR-B1 HRC SNAR-D SNORD32A LIN7B PTH2 FTL SNAR-A6 NUP62 DHDH SNAR-A1 CPT1C ATF5 PRMT1 MIR6800 SNAR-C5 AP2A1 PPP1R15A LMTK3 RASIP1 CCDC114 CD37 SNAR-A2 SCAF1 RPS11 PPFIA3 CARD8 SNORD34 SIGLEC16 SNORD33 NOSIP TBC1D17 TRPM4 TULP2 RPL13A ELSPBP1 MAMSTR PRR12 SNAR-A5 ZNF473 CARD8-AS1 SLC6A16 BAX MIR6798 MIR4750 SNORD35A MIR4749 SNAR-A7 VRK3 FLT3LG PTOV1 DBP C19orf73 CGB7 PTOV1-AS1 BCL2L12 SNAR-C4 ADM5 FUZ CGB3 SNAR-G2 CABP5 GRIN2D CGB2 MIR6799 SYNGR4 NTN5 SNORD35B MIR5088 SNAR-G1 TMEM143 MIR4751 ZNF114 ALDH16A1 TSKS SLC17A7 KCNJ14 LIG1 FUT2 SNAR-A13 RPL18 HSD17B14 DKKL1 SNRNP70 CGB5 SNAR-A11 SNAR-A9 KCNA7 SNAR-C2 SNAR-B2 MED25 FCGRT IL4I1 PLEKHA4 NUCB1-AS1 SNAR-C1 SPACA4 FLJ26850 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | HRC SNRNP70 C19orf73 LIN7B TRPM4 PPFIA3 |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | HRC TRPM4 PPFIA3 |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | HRC C19orf73 LIN7B TRPM4 PPFIA3 |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | HRC C19orf73 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 Exonic DGV Variation |