Product Details

Assay Reference Genome
Location

Chr.7:44153953 on build GRCh38
Cytoband
7p13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs73314157] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

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