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 | 127 | NP_002143.1 |
XM_017026733.1 | 1 | 146 | XP_016882222.1 | |
AK300706.1 | 1 | 117 | ||
BC069795.1 | 1 | 110 | AAH69795.1 | |
BC069802.1 | 1 | 110 | AAH69802.1 | |
BC094691.1 | 1 | 127 | AAH94691.1 | |
BC112355.1 | 1 | 92 | AAI12356.1 | |
M60052.1 | 1 | 110 | AAA88071.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833859 | Chr.19:48997009 - 49173266 on Build GRCh38 | Loss | CGB1 CGB5 SNAR-G1 CGB7 CGB3 SNAR-G2 PPFIA3 LHB TRPM4 KCNA7 HRC C19orf73 LIN7B SNRNP70 LOC101059948 MIR6798 CGB8 NTF4 CGB2 RUVBL2 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | SNORD35B FLT3LG PRRG2 SNAR-A9 PPFIA3 BCL2L12 PTH2 ATF5 MIR4750 CARD8 SNRNP70 BCAT2 SNORD33 FUZ FAM83E FTL FLJ26850 KCNJ14 NUCB1-AS1 SPACA4 IL4I1 PLA2G4C-AS1 SEC1P ELSPBP1 RPL18 SNAR-C2 CGB7 NUCB1 SNAR-A14 SNORD32A LIN7B ZNF114 SNAR-A1 RRAS KDELR1 SNAR-G1 SNORD35A SNAR-A10 FCGRT TRPM4 SNAR-C3 KCNA7 SNAR-B2 BSPH1 PTOV1-AS2 LOC105372430 SNAR-A13 SNAR-A3 LMTK3 TEAD2 ADM5 C19orf68 PNKP SNAR-D GRWD1 MAMSTR LOC100287477 CGB5 CGB3 TBC1D17 RPS11 GYS1 SNAR-C5 SNAR-A5 HSD17B14 GRIN2D SNAR-C4 TSKS FUT2 RPL13A LOC101059948 NUP62 PLEKHA4 MIR6798 MIR6799 RASIP1 LOC105447645 FUT1 SIGLEC16 SNAR-B1 PIH1D1 FGF21 SLC17A7 SNORD34 SPHK2 PRMT1 DBP SNAR-A6 MIR150 MIR6800 PPP1R15A RUVBL2 MIR5088 BAX MIR4749 CD37 DKKL1 NTN5 CYTH2 RCN3 AP2A1 PTOV1 PLA2G4C CGB8 IRF3 CABP5 VRK3 NOSIP PTOV1-AS1 DHDH ALDH16A1 LHB SNAR-C1 SNAR-A8 ZNF473 TULP2 CCDC155 HRC CPT1C C19orf73 MED25 SIGLEC11 EMP3 MIR4751 GFY NTF4 SNAR-A4 CCDC114 SLC6A16 SNAR-A7 SNAR-A12 CGB1 SULT2B1 MIR4324 SNAR-G2 IZUMO1 LOC101928295 CARD8-AS1 SNAR-A2 SNAR-A11 CA11 AKT1S1 SCAF1 TMEM143 LIG1 PRR12 CGB2 SYNGR4 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | C19orf73 LIN7B SNRNP70 PPFIA3 TRPM4 HRC |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | PPFIA3 TRPM4 HRC |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | C19orf73 LIN7B PPFIA3 TRPM4 HRC |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | C19orf73 LIN7B PPFIA3 TRPM4 HRC |
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 Exonic DGV Variation |