Product Details

Assay Reference Genome
Location

Chr.20:44356211 on build GRCh38
Cytoband
20q13.12
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
3172
Gene Symbol
HNF4A
Gene Name
hepatocyte nuclear factor 4 alpha
Gene Aliases
FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF14
Location
Chr.20:44355801-44432845 on build GRCh38
Assay Gene Location
Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HNF4A NM_001030003.2 NP_001025174.1
NM_001030004.2 NP_001025175.1
NM_001287182.1 NP_001274111.1
NM_001287183.1 NP_001274112.1
NM_001287184.1 NP_001274113.1
NM_175914.4 NP_787110.2
AK096973.1 1 762
AY680696.1 AAT91237.1
AY680697.1 AAT91238.1
AY680698.1 AAT91239.1
FJ608822.1
HQ692868.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1057847 Chr20:42652464 - 44431352 on Build GRCh38 Loss HNF4A OSER1-AS1 R3HDML L3MBTL1 SGK2 LOC101927159 LOC101927200 GTSF1L FITM2 LOC101927138 LOC105372626 MYBL2 GDAP1L1 SRSF6 MIR3646 TOX2 HNF4A-AS1 JPH2 OSER1 IFT52 PTPRT
nsv586065 Chr20:44261867 - 44505244 on Build GRCh38 Gain HNF4A R3HDML TTPAL GDAP1L1 SERINC3 MIR3646 HNF4A-AS1 LINC01620 FITM2 LINC01430

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