Product Details

Assay Reference Genome
Location

Chr.7:44163481 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 POLD2 AEBP1 GCK POLM YKT6 MIR6838 MIR4649 MYL7
nsv8082 Chr7:43956156 - 44207229 on Build GRCh38 Gain POLD2 PGAM2 POLR2J4 RASA4CP MIR6837 YKT6 MIR6838 SPDYE1 MIR4649 LINC00957 DBNL AEBP1 GCK POLM MYL7
nsv428165 Chr7:43855828 - 44172960 on Build GRCh38 Gain POLD2 PGAM2 POLR2J4 RASA4CP URGCP-MRPS24 MIR6837 URGCP MIR6838 SPDYE1 LOC107986791 MIR4649 LINC00957 DBNL AEBP1 MRPS24 GCK POLM UBE2D4 MYL7
nsv509195 Chr7:44147118 - 44261782 on Build GRCh38 Insertion CAMK2B GCK YKT6

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