Product Details

SNP ID
rs193922278
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44145227 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTCCTCCGACTCGATGAAGGTG[T/A]TCTCGCAGCTGGGCGTCAGCCTGCG
Phenotype
MIM: 138079 MIM: 613993
Polymorphism
T/A, Transversion 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 1777 Missense Mutation AAC,ATC N436I NP_000153.1
NM_033507.1 1777 Missense Mutation AAC,ATC N437I NP_277042.1
NM_033508.1 1777 Missense Mutation AAC,ATC N435I NP_277043.1
XM_017011966.1 1777 Missense Mutation AAC,ATC N436I XP_016867455.1
Gene
MYL7
Gene Name
myosin light chain 7
There are no transcripts associated with this gene.

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