Assay Details
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 |