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: | Overlaps Intron 1 - Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HRC | NM_002152.2 | NP_002143.1 | ||
XM_017026733.1 | XP_016882222.1 | |||
BC069795.1 | AAH69795.1 | |||
BC069802.1 | AAH69802.1 | |||
BC094691.1 | AAH94691.1 | |||
BC112355.1 | AAI12356.1 | |||
M60052.1 | 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 | RUVBL2 CGB3 CGB5 MIR6798 LOC101059948 SNRNP70 C19orf73 SNAR-G1 PPFIA3 LHB CGB2 CGB8 SNAR-G2 NTF4 KCNA7 CGB1 TRPM4 HRC LIN7B CGB7 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | SCAF1 RUVBL2 IRF3 SNAR-A7 SNORD33 MIR6798 LOC101928295 LOC101059948 SNAR-A3 C19orf73 TEAD2 RASIP1 SNORD32A PTH2 CGB2 CARD8 LIN7B SYNGR4 NUCB1 FLT3LG MIR4751 PTOV1 TBC1D17 SNAR-A9 SNAR-A5 MIR4749 KCNJ14 SPHK2 MIR4324 CPT1C NTF4 SIGLEC16 PRMT1 GRWD1 ADM5 SEC1P NUCB1-AS1 DHDH BAX PLA2G4C-AS1 LOC105372430 DKKL1 SNAR-A11 NUP62 SNAR-G1 FUZ CARD8-AS1 RRAS SNORD35B SNAR-D TRPM4 RPS11 FAM83E SNAR-A2 FUT2 FCGRT PTOV1-AS2 CGB5 PPP1R15A SNORD34 FTL RPL18 TULP2 GFY SNAR-A6 SNAR-C1 SNAR-C2 CCDC155 PLA2G4C PRRG2 FGF21 HRC ATF5 CGB7 BCL2L12 LOC100287477 SLC17A7 IL4I1 MAMSTR CGB3 SNAR-A10 KDELR1 MIR6800 PPFIA3 SNAR-B2 SNAR-C3 CCDC114 IZUMO1 SNAR-C4 PNKP SPACA4 TSKS CYTH2 SNAR-G2 NTN5 FLJ26850 BSPH1 NOSIP DBP MIR4750 PRR12 ALDH16A1 HSD17B14 SLC6A16 LIG1 RPL13A SNRNP70 SNAR-A4 CA11 SNAR-C5 EMP3 SNAR-A14 GRIN2D KCNA7 MIR6799 SIGLEC11 PLEKHA4 BCAT2 TMEM143 ELSPBP1 AP2A1 SNORD35A SNAR-A8 CGB8 LOC105447645 MIR150 CGB1 ZNF473 FUT1 SNAR-A13 AKT1S1 RCN3 CABP5 SNAR-B1 SNAR-A12 LMTK3 ZNF114 GYS1 MED25 LHB PIH1D1 CD37 PTOV1-AS1 SULT2B1 VRK3 C19orf68 MIR5088 SNAR-A1 |
dgv3621n100 | Chr.19:49092699 - 49163985 on Build GRCh38 | Gain | TRPM4 HRC SNRNP70 LIN7B C19orf73 PPFIA3 |
nsv524235 | Chr.19:49136745 - 49158770 on Build GRCh38 | Gain | TRPM4 HRC PPFIA3 |
nsv1060108 | Chr.19:49118098 - 49183334 on Build GRCh38 | Gain | TRPM4 HRC LIN7B C19orf73 PPFIA3 |
esv2760526 | Chr.19:49115521 - 49170761 on Build GRCh38 | Gain | TRPM4 HRC LIN7B C19orf73 PPFIA3 |
esv3644616 | Chr.19:49147706 - 49163844 on Build GRCh38 | Gain | TRPM4 HRC PPFIA3 |
dgv667e214 | Chr.19:49130606 - 49174364 on Build GRCh38 | Gain | TRPM4 HRC PPFIA3 |
More Information
Additional Information:
For this assay, SNP(s) [rs76146490] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |