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 | 1695 | NP_002143.1 |
XM_017026733.1 | 1 | 1714 | XP_016882222.1 | |
AK300706.1 | ||||
BC069795.1 | 1 | 1678 | AAH69795.1 | |
BC069802.1 | 1 | 1678 | AAH69802.1 | |
BC094691.1 | 1 | 1695 | AAH94691.1 | |
BC112355.1 | 1 | 1660 | AAI12356.1 | |
M60052.1 | 1 | 1678 | 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 | LIN7B LOC101059948 HRC MIR6798 C19orf73 CGB1 CGB2 NTF4 LHB CGB5 RUVBL2 SNRNP70 KCNA7 CGB3 SNAR-G2 PPFIA3 SNAR-G1 CGB8 CGB7 TRPM4 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | FLJ26850 RPL18 KCNJ14 SNAR-A9 BSPH1 PLA2G4C-AS1 SNAR-A11 FLT3LG RCN3 MIR5088 MIR150 IL4I1 FGF21 SPACA4 PRRG2 SNAR-C4 LOC101059948 PNKP EMP3 ELSPBP1 SNORD33 SIGLEC11 GRWD1 ADM5 RRAS MIR4750 PTH2 SNAR-A13 PPP1R15A ZNF473 FAM83E CD37 SNAR-A8 MIR4749 SNAR-G1 CGB8 SNORD32A NTN5 TMEM143 VRK3 CARD8 LMTK3 SNAR-A1 ALDH16A1 CYTH2 FUT2 ATF5 SNORD35A PLA2G4C C19orf73 SNAR-A14 SNAR-C1 SNAR-C5 SNAR-D SNAR-C3 SNAR-B2 CCDC155 MIR4751 RUVBL2 KCNA7 LOC101928295 MIR4324 PRR12 PTOV1-AS1 GYS1 TEAD2 RPL13A PRMT1 SPHK2 BAX SNAR-A5 SLC6A16 FUZ NUCB1 NOSIP SULT2B1 IRF3 AP2A1 SNAR-A3 LOC105447645 SEC1P BCAT2 SYNGR4 FTL SNAR-A6 MIR6798 DHDH SNORD35B CGB2 LHB CGB5 MED25 SNRNP70 SNAR-A12 PTOV1 SNAR-G2 PPFIA3 CGB7 LIN7B HRC SIGLEC16 PTOV1-AS2 RPS11 SNAR-A7 FUT1 MIR6800 CGB1 NUCB1-AS1 LOC100287477 MAMSTR SNAR-A10 SNAR-C2 SCAF1 C19orf68 KDELR1 PLEKHA4 NUP62 SNAR-A4 SNAR-B1 ZNF114 LIG1 MIR6799 NTF4 GRIN2D FCGRT DBP IZUMO1 CPT1C CARD8-AS1 BCL2L12 CCDC114 SNAR-A2 CABP5 CA11 LOC105372430 TBC1D17 SLC17A7 CGB3 RASIP1 PIH1D1 SNORD34 TSKS HSD17B14 TULP2 GFY AKT1S1 DKKL1 TRPM4 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | LIN7B SNRNP70 HRC PPFIA3 C19orf73 TRPM4 |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | HRC PPFIA3 TRPM4 |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | LIN7B HRC PPFIA3 C19orf73 TRPM4 |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | LIN7B HRC PPFIA3 C19orf73 TRPM4 |
esv3644616 | Chr.19:49147706 - 49163844 on Build GRCh38 | Gain | HRC PPFIA3 TRPM4 |
dgv667e214 | Chr.19:49130606 - 49174364 on Build GRCh38 | Gain | HRC PPFIA3 TRPM4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |