Hs01701228_cn

• Gene Symbol: PPP1R12C
• Assay Reference Genome Location: Chr.19:55093200 on build GRCh38
• Cytoband: 19q13.42

Target Gene Details

• Entrez Gene ID: 54776
• Gene Name: protein phosphatase 1 regulatory subunit 12C
• Gene Aliases: LENG3, MBS85, p84, p85
• Location: Chr.19:55090913-55117600 on Build GRCh38
• Assay Gene Location: Overlaps Intron 13 - Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPP1R12C	NM_001271618.1			NP_001258547.1
	NM_017607.3			NP_060077.1
	XM_005259013.3			XP_005259070.1
	XM_011527045.2			XP_011525347.1
	AB209452.1			BAD92689.1
	AF312028.1			AAG60045.1
	AK027086.1			BAB15651.1
	AK129529.1			BAC85179.1
	AK297187.1
	AK297426.1
	AL137618.1			CAB70844.1
	BC008030.1			AAH08030.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv817874	Chr.19:55067334 - 55103555 on Build GRCh38	Loss	PPP1R12C EPS8L1 RDH13
esv3644836	Chr.19:55084362 - 55113486 on Build GRCh38	Gain	PPP1R12C EPS8L1
esv3644829	Chr.19:55030893 - 55138732 on Build GRCh38	Gain	PPP1R12C GP6 MIR7975 EPS8L1 RDH13 TNNT1
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	KIR2DL4 KIR2DL3 LILRA1 NLRP2 LILRP2 EPS8L1 KIR3DL1 CDC42EP5 LILRB1 KIR2DL1 LILRB4 FCAR KIR3DX1 LILRA2 PPP1R12C LAIR2 LOC102724300 GP6 NLRP7 MIR8061 KIR3DL2 KIR3DL3 LOC101928804 KIR2DS4 RDH13 NCR1
nsv1072366	Chr.19:55093231 - 55094332 on Build GRCh38	Deletion	PPP1R12C
esv3893251	Chr.19:55079303 - 55094733 on Build GRCh38	Loss	PPP1R12C EPS8L1
nsv512597	Chr.19:55092516 - 55094369 on Build GRCh38	Loss	PPP1R12C
esv2758772	Chr.19:55026094 - 55139319 on Build GRCh38	Gain	PPP1R12C GP6 MIR7975 EPS8L1 RDH13 TNNT1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	KIR2DL4 KIR2DL3 LILRA1 NLRP2 LILRP2 EPS8L1 KIR3DL1 CDC42EP5 LILRB1 KIR2DL1 LILRB4 FCAR KIR3DX1 LILRA2 PPP1R12C LAIR2 LOC102724300 GP6 NLRP7 MIR8061 KIR3DL2 KIR3DL3 LOC101928804 KIR2DS4 RDH13 NCR1

More Information

Additional Information:

For this assay, SNP(s) [rs75554203] 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

Panther Classification:

Molecular Function -

phosphatase modulator

Gene Ontology Categories:

Function(s)

protein binding
protein kinase binding