Product Details

Assay Reference Genome
Location

Chr.12:52314663 on build GRCh38
Cytoband
12q13.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs147359482] 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.

Target Gene Details

Entrez Gene ID
3889
Gene Symbol
KRT83
Gene Name
keratin 83
Gene Aliases
HB3, Hb-3, KRTHB3
Location
Chr.12:52314301-52321398 on build GRCh38
Assay Gene Location
Within Exon 9
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
KRT83 NM_002282.3 9 1513 NP_002273.3
AK314904.1
BC069546.1 9 1500 AAH69546.1
BC126935.1 9 1456
BC128063.1 9 1472

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
dgv1503n100 Chr12:52285116 - 52394255 on Build GRCh38 Gain KRT84 KRT82 KRT83 KRT81 KRT86 KRT85
esv2759899 Chr12:52169480 - 52391735 on Build GRCh38 Gain KRT87P KRT84 KRT7 C12orf80 KRT83 KRT81 KRT86 LINC00592 KRT80 KRT85
dgv29e180 Chr12:52291976 - 52389509 on Build GRCh38 Gain KRT84 KRT83 KRT86 KRT85
nsv516938 Chr12:52283925 - 52394228 on Build GRCh38 Gain+Loss KRT84 KRT82 KRT83 KRT81 KRT86 KRT85
dgv487e212 Chr12:52294699 - 52388067 on Build GRCh38 Gain KRT84 KRT83 KRT86 KRT85
dgv200n27 Chr12:52297319 - 52395144 on Build GRCh38 Gain KRT84 KRT82 KRT83 KRT86 KRT85
dgv9e209 Chr12:52294216 - 52390216 on Build GRCh38 Duplication KRT84 KRT83 KRT86 KRT85
dgv2630n54 Chr12:52287930 - 52395144 on Build GRCh38 Gain KRT84 KRT82 KRT83 KRT81 KRT86 KRT85
esv27319 Chr12:52287366 - 52389709 on Build GRCh38 Gain+Loss KRT84 KRT83 KRT81 KRT86 KRT85
dgv70e55 Chr12:52282619 - 52398149 on Build GRCh38 Gain KRT84 KRT82 KRT83 KRT81 KRT86 KRT85
nsv558922 Chr12:52313066 - 52314636 on Build GRCh38 Gain KRT83
esv2760832 Chr12:52294900 - 52389052 on Build GRCh38 Gain KRT84 KRT83 KRT86 KRT85

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