Assay Details
Target Gene Details
Entrez Gene ID: | 285440 |
Gene Name: | cytochrome P450 family 4 subfamily V member 2 |
Gene Aliases: |
BCD, CYP4AH1 |
Location: |
Chr.4:186191520-186213463 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CYP4V2 | NM_207352.3 | 11 | 1803 | NP_997235.3 |
XM_005262935.3 | 11 | 1585 | XP_005262992.1 | |
XM_017008037.1 | 10 | 1561 | XP_016863526.1 | |
AK022114.1 | 5 | 686 | ||
AK122600.1 | 11 | 1538 | BAC85487.1 | |
AK126473.1 | 12 | 1472 | BAC86562.1 | |
AK311390.1 | 5 | 589 | ||
AY422002.1 | 11 | 1803 | AAR31180.1 | |
BC041839.1 | 4 | 1237 | AAH41839.1 | |
BC060857.1 | 11 | 1669 | AAH60857.1 | |
BX648537.1 | 5 | 734 | ||
BX648730.1 | 6 | 5557 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3894090 | Chr.4:186011626 - 186212421 on Build GRCh38 | Gain | FAM149A TLR3 FLJ38576 CYP4V2 |
nsv1028146 | Chr.4:185582745 - 186417181 on Build GRCh38 | Gain | F11 FAM149A TLR3 F11-AS1 FLJ38576 SORBS2 KLKB1 CYP4V2 |
nsv4644 | Chr.4:186185600 - 186219291 on Build GRCh38 | Insertion | FLJ38576 KLKB1 CYP4V2 |
nsv830172 | Chr.4:186091611 - 186247270 on Build GRCh38 | Loss | FAM149A FLJ38576 KLKB1 CYP4V2 |
nsv508340 | Chr.4:186138019 - 186215804 on Build GRCh38 | Deletion | FAM149A FLJ38576 KLKB1 CYP4V2 |
esv3603523 | Chr.4:186176579 - 186214960 on Build GRCh38 | Gain | FLJ38576 CYP4V2 |
nsv461864 | Chr.4:186085652 - 186335850 on Build GRCh38 | Gain | F11 FAM149A TLR3 F11-AS1 FLJ38576 KLKB1 CYP4V2 |
nsv596401 | Chr.4:186151229 - 186445495 on Build GRCh38 | Loss | F11 FAM149A F11-AS1 FLJ38576 KLKB1 CYP4V2 |
esv3603517 | Chr.4:186008703 - 186213065 on Build GRCh38 | Gain | FAM149A TLR3 FLJ38576 CYP4V2 |
dgv1052e214 | Chr.4:186072002 - 186212619 on Build GRCh38 | Gain | FAM149A TLR3 FLJ38576 CYP4V2 |
nsv4642 | Chr.4:186164028 - 186215260 on Build GRCh38 | Deletion | FAM149A FLJ38576 CYP4V2 |
esv3603525 | Chr.4:186210472 - 186225457 on Build GRCh38 | Loss | KLKB1 CYP4V2 |
More Information
Additional Information:
For this assay, SNP(s) [rs72646298] 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 |