Product Details

SNP ID
rs139948811
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27099457 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTGCCTGGGCTGAGGAGGGCGCC[A/G]ACGCCCTGGGCCCTGATGGCAAATT
Phenotype
MIM: 606137 MIM: 614058
Polymorphism
A/G, Transition 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 1157 Intron NP_001159711.1
NM_001166240.1 1157 UTR 3 NP_001159712.1
NM_001301324.1 1157 UTR 3 NP_001288253.1
NM_006569.5 1157 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 1157 Missense Mutation AAC,GAC N231D NP_000212.1
NM_006488.2 1157 Missense Mutation AAC,GAC N231D NP_006479.1
XM_005264294.3 1157 Missense Mutation AAC,GAC N277D XP_005264351.1
XM_005264296.3 1157 Missense Mutation AAC,GAC N232D XP_005264353.1
XM_005264298.3 1157 Missense Mutation AAC,GAC N147D XP_005264355.1
XM_006712008.3 1157 Intron XP_006712071.1
XM_006712009.3 1157 Intron XP_006712072.1
XM_006712010.3 1157 Intron XP_006712073.1
XM_006712011.3 1157 Intron XP_006712074.1
XM_006712012.3 1157 Intron XP_006712075.1
XM_006712013.3 1157 Intron XP_006712076.1
XM_006712014.3 1157 Intron XP_006712077.1
XM_017004060.1 1157 Missense Mutation AAC,GAC N276D XP_016859549.1
XM_017004061.1 1157 Missense Mutation AAC,GAC N186D XP_016859550.1

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