Product Details

Assay Reference Genome
Location

Chr.7:44159088 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
Overlaps Intron 2 - Exon 2
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 POLM MIR6838 MIR4649 POLD2 YKT6 AEBP1 MYL7 GCK
nsv8082 Chr7:43956156 - 44207229 on Build GRCh38 Gain SPDYE1 POLM LINC00957 MIR6838 YKT6 AEBP1 GCK DBNL RASA4CP PGAM2 MIR4649 POLD2 MYL7 MIR6837 POLR2J4
nsv428165 Chr7:43855828 - 44172960 on Build GRCh38 Gain SPDYE1 POLM LINC00957 MIR6838 UBE2D4 URGCP-MRPS24 LOC107986791 AEBP1 GCK DBNL RASA4CP PGAM2 MIR4649 POLD2 MYL7 MIR6837 POLR2J4 MRPS24 URGCP
nsv509195 Chr7:44147118 - 44261782 on Build GRCh38 Insertion YKT6 GCK CAMK2B

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