Hs02637814_cn

• Gene Symbol: HRC
• Assay Reference Genome Location: Chr.19:49154156 on build GRCh38
• Cytoband: 19q13.33

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	1269	NP_002143.1
	XM_017026733.1	1	1288	XP_016882222.1
	AK300706.1	2	1169
	BC069795.1	1	1252	AAH69795.1
	BC069802.1	1	1252	AAH69802.1
	BC094691.1	1	1269	AAH94691.1
	BC112355.1	1	1234	AAI12356.1
	M60052.1	1	1252	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	CGB3 CGB2 CGB7 NTF4 CGB1 C19orf73 TRPM4 SNRNP70 PPFIA3 HRC SNAR-G2 LHB SNAR-G1 KCNA7 LIN7B MIR6798 CGB5 LOC101059948 CGB8 RUVBL2
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	FUZ PRRG2 SNAR-B1 DBP CGB2 PLA2G4C-AS1 MAMSTR SLC17A7 PNKP SNAR-A11 LIG1 FCGRT CPT1C GYS1 MIR4749 SNAR-C3 PTOV1-AS2 PLEKHA4 SNAR-A10 SNAR-A4 CGB5 CD37 RPL13A FUT1 MIR4751 SNAR-B2 PPP1R15A FLT3LG KCNJ14 RCN3 SNAR-A13 NTF4 SNAR-A2 SEC1P CGB1 TSKS SNAR-C2 BCL2L12 SLC6A16 TMEM143 RUVBL2 BCAT2 LOC101928295 RRAS PRR12 VRK3 C19orf73 SNORD32A HRC FLJ26850 SYNGR4 CARD8-AS1 IZUMO1 SNORD35A TULP2 KCNA7 LOC105447645 SNORD35B IRF3 MIR6798 LOC100287477 SNAR-D SNAR-A9 ALDH16A1 MIR4750 GRIN2D CGB7 SIGLEC16 GFY MED25 IL4I1 FUT2 FTL MIR6800 SNAR-G1 SULT2B1 AKT1S1 C19orf68 EMP3 BAX SNAR-A8 RPS11 SNAR-C1 HSD17B14 PRMT1 ZNF114 FAM83E CGB3 AP2A1 NUCB1 LMTK3 DKKL1 PPFIA3 PTOV1-AS1 ADM5 GRWD1 NTN5 FGF21 RASIP1 NUCB1-AS1 CABP5 CCDC114 CA11 CCDC155 PLA2G4C PTH2 SNRNP70 SNAR-A7 SNAR-G2 SNAR-A3 DHDH SNORD33 SNAR-A5 ELSPBP1 SNAR-C5 SPACA4 NUP62 LOC101059948 CGB8 RPL18 MIR150 ATF5 TBC1D17 SCAF1 PTOV1 NOSIP SNAR-A12 PIH1D1 SNORD34 MIR5088 LIN7B ZNF473 MIR6799 CARD8 MIR4324 SIGLEC11 SNAR-C4 CYTH2 SNAR-A6 BSPH1 SNAR-A14 TRPM4 TEAD2 SPHK2 LHB SNAR-A1 LOC105372430 KDELR1
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	LIN7B C19orf73 TRPM4 SNRNP70 PPFIA3 HRC
nsv524235	Chr.19:49136745 - 49158770 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	LIN7B C19orf73 TRPM4 PPFIA3 HRC
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	LIN7B C19orf73 TRPM4 PPFIA3 HRC
esv3644616	Chr.19:49147706 - 49163844 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC

More Information

Additional Information:

For this assay, SNP(s) [rs113958500] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of heart rate
muscle contraction
positive regulation of heart rate
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
regulation of peptidyl-serine phosphorylation
positive regulation of heart contraction
regulation of cytosolic calcium ion concentration
negative regulation of cytosolic calcium ion concentration
regulation of ryanodine-sensitive calcium-release channel activity
regulation of cell communication by electrical coupling involved in cardiac conduction
positive regulation of relaxation of cardiac muscle
regulation of calcium ion transmembrane transport

Function(s)

calcium ion binding
protein binding
ion channel binding
ATPase binding