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 | 1364 | NP_002143.1 |
XM_017026733.1 | 1 | 1383 | XP_016882222.1 | |
AK300706.1 | 2 | 1264 | ||
BC069795.1 | 1 | 1347 | AAH69795.1 | |
BC069802.1 | 1 | 1347 | AAH69802.1 | |
BC094691.1 | 1 | 1364 | AAH94691.1 | |
BC112355.1 | 1 | 1329 | AAI12356.1 | |
M60052.1 | 1 | 1347 | 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 HRC LHB LIN7B LOC101059948 KCNA7 CGB2 PPFIA3 SNAR-G1 CGB5 RUVBL2 SNAR-G2 C19orf73 CGB1 MIR6798 TRPM4 NTF4 CGB7 SNRNP70 CGB3 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | MIR4750 SNAR-A8 LIN7B CYTH2 PRRG2 FUT2 FLT3LG TMEM143 RRAS SNAR-A12 SNAR-C3 SNAR-B2 TEAD2 BAX RASIP1 SULT2B1 SNAR-A11 HSD17B14 ZNF473 FTL SNORD35A CGB3 CABP5 CGB8 SNAR-C2 CARD8 FCGRT C19orf68 CGB1 VRK3 ZNF114 SNORD33 SIGLEC11 FLJ26850 TRPM4 TULP2 SIGLEC16 SNAR-A3 NUP62 BSPH1 LMTK3 MIR6799 PRR12 ADM5 ALDH16A1 MIR4324 RUVBL2 KCNJ14 C19orf73 SPACA4 AKT1S1 CGB7 CA11 SNAR-A6 PNKP LHB DHDH NOSIP PTOV1-AS2 NUCB1 SNAR-A14 SNAR-G2 SNAR-A1 MED25 RCN3 GRIN2D SNORD35B SNRNP70 SNAR-C1 LIG1 LOC100287477 GYS1 EMP3 LOC101059948 SNAR-B1 SYNGR4 AP2A1 CGB2 SNAR-A5 PLA2G4C LOC105372430 MIR4749 CCDC114 SNAR-C4 MIR6798 SLC17A7 CD37 SNAR-A9 GRWD1 SCAF1 SNAR-A10 PPP1R15A PIH1D1 ELSPBP1 PTOV1-AS1 SNAR-A4 FAM83E RPS11 PRMT1 TBC1D17 SNAR-A2 KCNA7 SNAR-A7 SNAR-A13 IRF3 MAMSTR MIR5088 FGF21 PLEKHA4 CARD8-AS1 PLA2G4C-AS1 SNORD34 ATF5 PTOV1 MIR6800 BCL2L12 MIR4751 TSKS GFY FUZ NTN5 SNORD32A SNAR-C5 SPHK2 DBP NUCB1-AS1 SEC1P NTF4 DKKL1 BCAT2 LOC105447645 MIR150 HRC CCDC155 SLC6A16 RPL18 IL4I1 IZUMO1 FUT1 PPFIA3 SNAR-G1 CGB5 KDELR1 SNAR-D LOC101928295 RPL13A PTH2 CPT1C |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | HRC LIN7B TRPM4 PPFIA3 SNRNP70 C19orf73 |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | HRC TRPM4 PPFIA3 |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | HRC LIN7B TRPM4 PPFIA3 C19orf73 |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | HRC LIN7B TRPM4 PPFIA3 C19orf73 |
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 |