Product Details

Assay Reference Genome
Location

Chr.12:52319363 on build GRCh38
Cytoband
12q13.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs11290512] 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
Overlaps Intron 1 - Exon 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
KRT83 NM_002282.3 NP_002273.3
AK314904.1
BC069546.1 AAH69546.1
BC126935.1
BC128063.1

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 KRT81 KRT85 KRT83 KRT82 KRT84 KRT86
esv2759899 Chr12:52169480 - 52391735 on Build GRCh38 Gain KRT81 KRT85 LINC00592 KRT83 KRT84 KRT80 KRT87P KRT7 KRT86 C12orf80
dgv29e180 Chr12:52291976 - 52389509 on Build GRCh38 Gain KRT85 KRT83 KRT84 KRT86
nsv516938 Chr12:52283925 - 52394228 on Build GRCh38 Gain+Loss KRT81 KRT85 KRT83 KRT82 KRT84 KRT86
dgv487e212 Chr12:52294699 - 52388067 on Build GRCh38 Gain KRT85 KRT83 KRT84 KRT86
dgv200n27 Chr12:52297319 - 52395144 on Build GRCh38 Gain KRT85 KRT83 KRT82 KRT84 KRT86
dgv9e209 Chr12:52294216 - 52390216 on Build GRCh38 Duplication KRT85 KRT83 KRT84 KRT86
dgv2630n54 Chr12:52287930 - 52395144 on Build GRCh38 Gain KRT81 KRT85 KRT83 KRT82 KRT84 KRT86
esv27319 Chr12:52287366 - 52389709 on Build GRCh38 Gain+Loss KRT81 KRT85 KRT83 KRT84 KRT86
dgv70e55 Chr12:52282619 - 52398149 on Build GRCh38 Gain KRT81 KRT85 KRT83 KRT82 KRT84 KRT86
esv2760832 Chr12:52294900 - 52389052 on Build GRCh38 Gain KRT85 KRT83 KRT84 KRT86

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