Product Details

Assay Reference Genome
Location

Chr.20:56433785 on build GRCh38
Cytoband
20q13.31
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
57091
Gene Symbol
CASS4
Gene Name
Cas scaffolding protein family member 4
Gene Aliases
C20orf32, CAS4, HEFL, HEPL
Location
Chr.20:56411550-56460240 on build GRCh38
Assay Gene Location
Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CASS4 NM_001164114.1 NP_001157586.1
NM_001164115.1 NP_001157587.1
NM_001164116.1 NP_001157588.1
NM_020356.3 NP_065089.2
XM_006723831.3 XP_006723894.1
AJ276678.1 CAC00655.1
AK027760.1 BAB55351.1
AK295613.1
AK308057.1
AK314653.1
BC027951.1 AAH27951.1
BX280195.1
DA584687.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
dgv787e214 Chr20:56429038 - 56481532 on Build GRCh38 Gain RTFDC1 CASS4
esv3646189 Chr20:56430399 - 56481532 on Build GRCh38 Loss RTFDC1 CASS4
nsv525425 Chr20:56403979 - 56897294 on Build GRCh38 Gain RTFDC1 FAM209A CSTF1 CASS4 LOC105372682 TFAP2C GCNT7 FAM209B
nsv834013 Chr20:56307279 - 56476126 on Build GRCh38 Gain RTFDC1 CSTF1 CASS4 AURKA FAM210B
esv3646191 Chr20:56431805 - 56436322 on Build GRCh38 Loss CASS4

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