Product Details

SNP ID
rs193922283
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44145176 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGGCCTTCTTACAGGCCACCGCC[G/A]AGACCAGGGCCGCGCCCCGGCCACT
Phenotype
MIM: 138079 MIM: 613993
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
GCK PubMed Links

Gene Details

Gene
GCK
Gene Name
glucokinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000162.3 1828 Missense Mutation TCG,TTG S453L NP_000153.1
NM_033507.1 1828 Missense Mutation TCG,TTG S454L NP_277042.1
NM_033508.1 1828 Missense Mutation TCG,TTG S452L NP_277043.1
XM_017011966.1 1828 Missense Mutation TCG,TTG S453L XP_016867455.1
Gene
MYL7
Gene Name
myosin light chain 7
There are no transcripts associated with this gene.

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