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            • › Hs03371151_cn
            See other CHD1L CNV Assays ›
            Gene Symbol
            CHD1L
            Assay Reference Genome
            Location

            Chr.1:147199376 on build GRCh38
            Cytoband
            1q21.1
            Assay ID Hs03371151_cn
            Size
            Availability Made To Order
            Catalog # 4400291
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            • Genomic Map
            • Assay Details
            • More Information

            Genomic Map

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            Assay Details

            Target Gene Details

            Entrez Gene ID:

            9557

            Gene Name:

            chromodomain helicase DNA binding protein 1 like

            Gene Aliases:

            ALC1, CHDL

            Location:

            Chr.1:147172804-147295766 on Build GRCh38

            Assay Gene Location:

            Within Intron 2
            Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
            CHD1L XM_017002858.1 XP_016858347.1

            Target Gene Details

            Entrez Gene ID:

            2330

            Gene Name:

            flavin containing monooxygenase 5

            Gene Aliases:

            -

            Location:

            Chr.1:147183963-147225798 on Build GRCh38

            Assay Gene Location:

            Within Intron 8
            Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
            FMO5 NM_001144829.2 NP_001138301.1
            NM_001144830.2 NP_001138302.1
            NM_001461.3 NP_001452.2
            XM_005272946.4 XP_005273003.1
            XM_005272947.4 XP_005273004.1
            XM_005272948.4 XP_005273005.1
            XM_006711245.3 XP_006711308.1
            XM_011509350.2 XP_011507652.1
            XM_011509351.2 XP_011507653.1
            XM_017000801.1 XP_016856290.1
            XM_017000802.1 XP_016856291.1
            AK222728.1 BAD96448.1
            AK225739.1
            AK314647.1
            BC035687.1 AAH35687.1
            L37080.1 AAA67849.1
            Z47553.1 CAA87633.1

            Target Copy Number Variation Details

            DGV Version:

            Release date: 2016-05-15, GRCh GRCh38
            Target
            Variation
            Location CNV
            Subtype
            Genes
            dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 LOC101928979 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 RNVU1-6 CH17-408M7.1 LOC284561 NBPF14
            nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss LOC100996763 RNVU1-1 LOC101928979 RNVU1-7 PDE4DIP RNF115 HFE2 RNU1-13P MIR5087 POLR3GL LOC105371226 CD160 PEX11B NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 TXNIP PRKAB2 LIX1L LOC728989 NOTCH2NL GPR89B GNRHR2 PDZK1P1 LINC01138 HYDIN2 RNVU1-6 NBPF14 NUDT17 GPR89A BCL9 LOC105371242 LOC100996517 GJA5 CHD1L PDIA3P1 RNVU1-8 RNVU1-3 MIR6077 PPIAL4G ANKRD35 LOC101927468 ITGA10 MIR6736 NUDT4P2 LINC00624 LOC100132057 ACP6 RBM8A ANKRD34A FMO5 NBPF12 CH17-408M7.1 LOC284561 POLR3C PIAS3 PDZK1
            nsv1121713 Chr.1:147010816 - 147207577 on Build GRCh38 Deletion FMO5 CHD1L LOC728989 PDIA3P1 RNVU1-8 NBPF13P PRKAB2
            esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 CH17-408M7.1 LOC284561 NBPF14
            nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 LOC101928979 RNVU1-8 RNVU1-7 PDE4DIP HFE2 RNU1-13P RNVU1-3 MIR6077 MIR5087 POLR3GL PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 TXNIP PRKAB2 LIX1L LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 ANKRD34A LINC01138 FMO5 HYDIN2 NBPF12 RNVU1-6 CH17-408M7.1 LOC284561 NBPF14
            nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 CH17-408M7.1 LOC284561 NBPF14
            nsv1003688 Chr.1:146036817 - 148934526 on Build GRCh38 Gain LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 LOC101928979 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 RNVU1-6 CH17-408M7.1 LOC284561 NBPF14
            dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion LOC100996763 BCL9 NBPF9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 LOC101928979 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 CH17-408M7.1 LOC284561 NBPF14
            nsv437047 Chr.1:147171976 - 147369886 on Build GRCh38 Loss FMO5 CHD1L PDIA3P1 PRKAB2

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            More Information


            Additional Information:

            For this assay, SNP(s) [rs72708586] 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 -

            oxidoreductase oxygenase metabolite interconversion enzyme

            Gene Ontology Categories:

            Function(s) Process(es)

            nucleotide-excision repair, DNA duplex unwinding
            DNA repair
            nucleotide-excision repair, preincision complex stabilization
            nucleotide-excision repair, preincision complex assembly
            nucleotide-excision repair, DNA incision, 3'-to lesion
            nucleotide-excision repair, DNA incision, 5'-to lesion
            chromatin remodeling
            cellular response to DNA damage stimulus
            nucleotide-excision repair, DNA incision
            global genome nucleotide-excision repair
            biological_process
            drug metabolic process
            oxidation-reduction process
            nucleotide binding
            nucleic acid binding
            ATP-dependent DNA helicase activity
            protein binding
            ATP binding
            ATPase activity
            N,N-dimethylaniline monooxygenase activity
            flavin adenine dinucleotide binding
            NADP binding

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