Product Details

SNP ID
rs200044768
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:176881174 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTGCAGGAACGTGACCACACAGC[A/G]AGGGGCCAGCTCCCGCACTGTGGCC
Phenotype
MIM: 142570 MIM: 607869
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
HK3 PubMed Links

Gene Details

Gene
HK3
Gene Name
hexokinase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002115.2 2763 Missense Mutation CGC,TGC R891C NP_002106.2
XM_011534540.2 2763 Intron XP_011532842.1
XM_017009411.1 2763 Missense Mutation CGC,TGC R834C XP_016864900.1
Gene
UNC5A
Gene Name
unc-5 netrin receptor A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_133369.2 2763 Intron NP_588610.2
XM_006714927.1 2763 Intron XP_006714990.1
XM_006714928.1 2763 Intron XP_006714991.1
XM_011534686.1 2763 Intron XP_011532988.1
XM_011534687.2 2763 Intron XP_011532989.1

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