Assay Details
Target Gene Details
Entrez Gene ID: | 284615 |
Gene Name: | ankyrin repeat domain 34A |
Gene Aliases: |
ANKRD34 |
Location: |
Chr.1:145959441-145964582 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ANKRD34A | NM_001039888.3 | 4 | 3080 | NP_001034977.1 |
AK094282.1 | 2 | 1981 | ||
AK128050.1 | 4 | 3074 | ||
AL359622.1 | 1 | 760 | CAH10676.1 |
Target Gene Details
Entrez Gene ID: | 84265 |
Gene Name: | RNA polymerase III subunit G like |
Gene Aliases: |
RPC32HOM, flj32422 |
Location: |
Chr.1:145959037-145978848 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLR3GL | XM_005277431.4 | XP_005277488.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1005055 | Chr.1:145642988 - 148991068 on Build GRCh38 | Loss | PDE4DIP LOC728989 LOC100505824 LOC284561 CD160 RNVU1-7 PIAS3 LOC100132057 NBPF11 RNVU1-6 ACP6 LOC100996763 LOC105371242 NUDT4P2 MIR6077 GPR89A GPR89B LOC105371226 PEX11B CH17-408M7.1 NBPF10 RBM8A PRKAB2 GNRHR2 ANKRD35 LINC01138 LOC100996517 GJA5 FMO5 RNVU1-3 RNVU1-1 LINC00624 BCL9 LIX1L ANKRD34A PDIA3P1 MIR5087 NUDT17 TXNIP MIR6736 NBPF12 ITGA10 POLR3C RNVU1-8 LOC101928979 CHD1L RNF115 HFE2 NBPF14 GJA8 POLR3GL NOTCH2NL LOC101927468 NBPF13P RNU1-13P PPIAL4G PDZK1 HYDIN2 NUDT4P1 PDZK1P1 |
nsv509457 | Chr.1:145948024 - 149021821 on Build GRCh38 | Insertion | PDE4DIP LOC728989 LOC100505824 LOC284561 BCL9 LIX1L ANKRD34A RNVU1-7 PDIA3P1 MIR5087 LOC100132057 NBPF11 TXNIP RNVU1-6 NBPF12 ACP6 LOC100996763 LOC105371242 NUDT4P2 RNVU1-8 MIR6077 LOC101928979 GPR89B LOC105371226 CHD1L CH17-408M7.1 NBPF10 HFE2 PRKAB2 LINC01138 NBPF14 GJA8 POLR3GL NOTCH2NL LOC100996517 LOC101927468 GJA5 FMO5 NBPF13P RNU1-13P PPIAL4G RNVU1-3 HYDIN2 RNVU1-1 LINC00624 NUDT4P1 PDZK1P1 |
nsv831381 | Chr.1:145784568 - 145960930 on Build GRCh38 | Gain | PEX11B RNF115 LIX1L ANKRD34A PIAS3 RBM8A GNRHR2 ANKRD35 NUDT17 POLR3GL MIR6736 ITGA10 POLR3C |
More Information
Additional Information:
For this assay, SNP(s) [rs116099529] 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 Intronic Non-exonic DGV Variation |