Assay Details
Target Gene Details
Entrez Gene ID: | 10087 |
Gene Name: | collagen type IV alpha 3 binding protein |
Gene Aliases: |
CERT, CERTL, GPBP, MRD34, STARD11 |
Location: |
Chr.5:75368486-75511981 on Build GRCh38 |
Assay Gene Location: | Within Exon 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COL4A3BP | NM_001130105.1 | 19 | 5054 | NP_001123577.1 |
NM_005713.2 | 18 | 4955 | NP_005704.1 | |
NM_031361.2 | 17 | 4877 | NP_112729.1 | |
XM_006714513.2 | XP_006714576.1 | |||
XM_011543090.2 | 17 | 4818 | XP_011541392.1 | |
XM_011543091.2 | 16 | 4740 | XP_011541393.1 | |
XM_017008919.1 | XP_016864408.1 | |||
AK125387.1 | 1 | 299 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3575856 | Chr.5:75260838 - 75400813 on Build GRCh38 | Gain | COL4A3BP HMGCR |
More Information
Additional Information:
For this assay, SNP(s) [rs117263165] 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 |