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 | 413 | NP_002143.1 |
XM_017026733.1 | 1 | 432 | XP_016882222.1 | |
AK300706.1 | ||||
BC069795.1 | 1 | 396 | AAH69795.1 | |
BC069802.1 | 1 | 396 | AAH69802.1 | |
BC094691.1 | 1 | 413 | AAH94691.1 | |
BC112355.1 | 1 | 378 | AAI12356.1 | |
M60052.1 | 1 | 396 | 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 | HRC LOC101059948 C19orf73 CGB3 LIN7B CGB2 KCNA7 PPFIA3 CGB1 CGB8 CGB5 SNAR-G1 MIR6798 RUVBL2 SNAR-G2 TRPM4 NTF4 SNRNP70 LHB CGB7 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | LOC101928295 LOC101059948 SNAR-C2 PTOV1 PTOV1-AS1 PNKP TULP2 PLA2G4C-AS1 HSD17B14 MIR6799 LOC100287477 PIH1D1 SNAR-C4 IL4I1 FCGRT CARD8-AS1 SNAR-G2 SNAR-A7 LHB CGB7 KCNJ14 CD37 SNAR-B2 MIR4749 CYTH2 GYS1 BSPH1 C19orf73 IZUMO1 LOC105447645 EMP3 KCNA7 MIR5088 MIR4750 ELSPBP1 SNAR-A2 SNAR-A13 LMTK3 ADM5 SNAR-G1 PTOV1-AS2 BCL2L12 ALDH16A1 PPP1R15A TRPM4 SNRNP70 IRF3 FLT3LG CA11 ATF5 NUP62 SIGLEC16 HRC DBP FUZ AP2A1 SNORD33 LIG1 SNAR-C3 SLC17A7 PPFIA3 MED25 SNAR-A8 MIR150 RPL18 ZNF473 SNAR-C1 SNORD32A TEAD2 FTL CGB1 TBC1D17 RRAS RUVBL2 FGF21 DKKL1 SYNGR4 SULT2B1 CARD8 CCDC155 SNAR-A11 SNORD34 FUT2 BCAT2 SNAR-A5 CPT1C FAM83E SNAR-D CCDC114 PRMT1 CGB8 SNAR-A14 PTH2 MIR6798 RCN3 SCAF1 SEC1P SLC6A16 CABP5 RASIP1 GFY SPHK2 SNAR-A12 RPS11 DHDH PLA2G4C FLJ26850 CGB5 SNAR-B1 SNAR-C5 SIGLEC11 AKT1S1 FUT1 BAX PRRG2 RPL13A SNAR-A6 NOSIP PRR12 SNORD35B TSKS CGB2 SPACA4 TMEM143 NUCB1 MIR4751 SNAR-A9 LOC105372430 GRIN2D ZNF114 NTN5 SNORD35A KDELR1 GRWD1 MIR4324 SNAR-A4 CGB3 LIN7B C19orf68 NUCB1-AS1 MAMSTR VRK3 SNAR-A1 SNAR-A3 MIR6800 NTF4 SNAR-A10 PLEKHA4 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | PPFIA3 HRC C19orf73 TRPM4 LIN7B SNRNP70 |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | PPFIA3 HRC TRPM4 |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | PPFIA3 HRC C19orf73 TRPM4 LIN7B |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | PPFIA3 HRC C19orf73 TRPM4 LIN7B |
esv3644616 | Chr.19:49147706 - 49163844 on Build GRCh38 | Gain | PPFIA3 HRC TRPM4 |
dgv667e214 | Chr.19:49130606 - 49174364 on Build GRCh38 | Gain | PPFIA3 HRC TRPM4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |