Product Details

Assay Reference Genome
Location

Chr.7:44170742 on build GRCh38
Cytoband
7p13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
2645
Gene Symbol
GCK
Gene Name
glucokinase
Gene Aliases
FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2
Location
Chr.7:44143213-44189439 on build GRCh38
Assay Gene Location
Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
GCK NM_000162.3 NP_000153.1
XM_017011966.1 XP_016867455.1
BC001890.1 AAH01890.1
BT007062.1 AAP35711.1
EU008605.1
M88011.1 AAA51824.1
M90299.1 AAA52562.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv830983 Chr7:44068842 - 44201624 on Build GRCh38 Loss GCK POLD2 AEBP1 MIR4649 MYL7 MIR6838 POLM YKT6
nsv8082 Chr7:43956156 - 44207229 on Build GRCh38 Gain PGAM2 AEBP1 MIR4649 DBNL RASA4CP GCK SPDYE1 POLD2 POLR2J4 MIR6837 MYL7 MIR6838 POLM YKT6 LINC00957
nsv428165 Chr7:43855828 - 44172960 on Build GRCh38 Gain LOC107986791 URGCP-MRPS24 PGAM2 MRPS24 AEBP1 MIR4649 DBNL URGCP RASA4CP GCK SPDYE1 POLD2 POLR2J4 MIR6837 UBE2D4 MYL7 MIR6838 POLM LINC00957
nsv509195 Chr7:44147118 - 44261782 on Build GRCh38 Insertion GCK YKT6 CAMK2B

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