Product Details

Assay Reference Genome
Location

Chr.20:44363429 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
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 LOC101927200 GDAP1L1 L3MBTL1 JPH2 LOC101927159 PTPRT MIR3646 GTSF1L LOC105372626 SRSF6 IFT52 LOC101927138 R3HDML OSER1 OSER1-AS1 HNF4A-AS1 HNF4A SGK2 FITM2 MYBL2 TOX2
nsv586065 Chr20:44261867 - 44505244 on Build GRCh38 Gain TTPAL LINC01620 R3HDML GDAP1L1 HNF4A-AS1 HNF4A FITM2 MIR3646 SERINC3 LINC01430

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