Product Details

Assay Reference Genome
Location

Chr.7:44155750 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 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
GCK NM_000162.3 NP_000153.1
NM_033507.1 NP_277042.1
NM_033508.1 NP_277043.1
XM_017011966.1 XP_016867455.1
AK122876.1
BC001890.1 AAH01890.1
BT007062.1 AAP35711.1
DA640823.1
EU008605.1
M69051.1 AAB59563.1
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 MIR6838 MYL7 POLD2 YKT6 GCK POLM MIR4649 AEBP1
nsv8082 Chr7:43956156 - 44207229 on Build GRCh38 Gain MYL7 POLD2 LINC00957 YKT6 POLR2J4 RASA4CP POLM MIR6837 MIR4649 SPDYE1 MIR6838 DBNL GCK AEBP1 PGAM2
nsv428165 Chr7:43855828 - 44172960 on Build GRCh38 Gain MYL7 POLD2 LINC00957 POLR2J4 RASA4CP UBE2D4 POLM MIR6837 URGCP MIR4649 URGCP-MRPS24 SPDYE1 MIR6838 DBNL GCK LOC107986791 MRPS24 AEBP1 PGAM2
nsv509195 Chr7:44147118 - 44261782 on Build GRCh38 Insertion YKT6 GCK CAMK2B

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