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 | 659 | NP_002143.1 |
XM_017026733.1 | 1 | 678 | XP_016882222.1 | |
AK300706.1 | 2 | 559 | ||
BC069795.1 | 1 | 642 | AAH69795.1 | |
BC069802.1 | 1 | 642 | AAH69802.1 | |
BC094691.1 | 1 | 659 | AAH94691.1 | |
BC112355.1 | 1 | 624 | AAI12356.1 | |
M60052.1 | 1 | 642 | 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 | PPFIA3 CGB2 CGB5 LHB LIN7B RUVBL2 CGB8 MIR6798 CGB7 SNRNP70 TRPM4 CGB1 NTF4 HRC KCNA7 SNAR-G2 SNAR-G1 CGB3 C19orf73 LOC101059948 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | RUVBL2 MIR4324 CPT1C SPHK2 SIGLEC11 LOC101928295 CGB7 NUP62 AP2A1 SNAR-B2 KCNA7 PTH2 TMEM143 CARD8 CGB3 CCDC114 LOC101059948 PPP1R15A TULP2 SNAR-A14 TSKS FUT1 PNKP SEC1P ZNF114 GFY RPS11 NUCB1 GYS1 SNAR-A4 DKKL1 MIR4750 SNAR-D SNAR-C1 GRWD1 SPACA4 SNAR-C4 FGF21 PTOV1 CD37 GRIN2D LHB NOSIP SNAR-A5 CGB8 NUCB1-AS1 SNORD33 BSPH1 MIR150 AKT1S1 DBP MIR6800 SNORD35B RCN3 KDELR1 SNAR-A13 SNORD32A SNAR-A12 SNORD34 PRRG2 LOC105372430 MIR4751 SULT2B1 FUZ SNAR-C5 SNAR-A8 RRAS FCGRT SNAR-A6 MED25 ALDH16A1 SCAF1 CABP5 CYTH2 CGB1 SIGLEC16 CARD8-AS1 ATF5 VRK3 MIR5088 PIH1D1 SYNGR4 RPL18 CGB2 MIR4749 SNAR-A11 PRR12 HSD17B14 TBC1D17 BCL2L12 KCNJ14 C19orf68 TRPM4 LMTK3 NTF4 PTOV1-AS2 LIG1 PLEKHA4 SNAR-A7 SNAR-G2 TEAD2 FAM83E NTN5 PTOV1-AS1 LOC105447645 MIR6798 PLA2G4C IRF3 PLA2G4C-AS1 SNRNP70 FLJ26850 RASIP1 ELSPBP1 SNAR-B1 IL4I1 CGB5 LIN7B BCAT2 SNAR-A3 MIR6799 DHDH SNAR-A10 SNAR-A2 FLT3LG PRMT1 MAMSTR BAX SNAR-G1 EMP3 SNAR-A9 PPFIA3 SNAR-C2 ZNF473 ADM5 SLC6A16 LOC100287477 CCDC155 FUT2 IZUMO1 RPL13A HRC SLC17A7 SNORD35A FTL SNAR-A1 C19orf73 CA11 SNAR-C3 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | PPFIA3 SNRNP70 TRPM4 LIN7B HRC C19orf73 |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | PPFIA3 TRPM4 HRC |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | PPFIA3 TRPM4 LIN7B HRC C19orf73 |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | PPFIA3 TRPM4 LIN7B HRC C19orf73 |
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 |