Product Details

SNP ID
rs116026105
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27099732 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGCAAGAAGTGTGGCCTGCAGGG[A/C]TTTGATGGCATCGTGTGAGAGCAGG
Phenotype
MIM: 606137 MIM: 614058
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CGREF1 PubMed Links

Gene Details

Gene
CGREF1
Gene Name
cell growth regulator with EF-hand domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166239.1 882 Intron NP_001159711.1
NM_001166240.1 882 UTR 3 NP_001159712.1
NM_001301324.1 882 UTR 3 NP_001288253.1
NM_006569.5 882 Intron NP_006560.3
Gene
KHK
Gene Name
ketohexokinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000221.2 882 Silent Mutation GGA,GGC G293G NP_000212.1
NM_006488.2 882 Silent Mutation GGA,GGC G293G NP_006479.1
XM_005264294.3 882 Silent Mutation GGA,GGC G339G XP_005264351.1
XM_005264296.3 882 Silent Mutation GGA,GGC G294G XP_005264353.1
XM_005264298.3 882 Silent Mutation GGA,GGC G209G XP_005264355.1
XM_006712008.3 882 Intron XP_006712071.1
XM_006712009.3 882 Intron XP_006712072.1
XM_006712010.3 882 Intron XP_006712073.1
XM_006712011.3 882 Intron XP_006712074.1
XM_006712012.3 882 Intron XP_006712075.1
XM_006712013.3 882 Intron XP_006712076.1
XM_006712014.3 882 Intron XP_006712077.1
XM_017004060.1 882 Silent Mutation GGA,GGC G338G XP_016859549.1
XM_017004061.1 882 Silent Mutation GGA,GGC G248G XP_016859550.1

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