Product Details

Assay Reference Genome
Location

Chr.7:44156828 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 MIR4649 AEBP1 POLD2 MIR6838 YKT6 MYL7 GCK POLM
nsv8082 Chr7:43956156 - 44207229 on Build GRCh38 Gain MIR4649 PGAM2 LINC00957 POLD2 YKT6 SPDYE1 GCK RASA4CP AEBP1 MIR6838 POLR2J4 MYL7 MIR6837 POLM DBNL
nsv428165 Chr7:43855828 - 44172960 on Build GRCh38 Gain MIR4649 PGAM2 MRPS24 LINC00957 POLD2 SPDYE1 GCK UBE2D4 RASA4CP AEBP1 MIR6838 POLR2J4 URGCP-MRPS24 MYL7 LOC107986791 MIR6837 URGCP POLM DBNL
nsv509195 Chr7:44147118 - 44261782 on Build GRCh38 Insertion CAMK2B YKT6 GCK

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