Product Details

SNP ID
rs112792159
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3574494 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCTTCCTGAACGAGCGGCGCGAG[A/C]AGATCCGCACGCGCCACCCGGATCT
Phenotype
MIM: 605535
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
HMG20B PubMed Links

Gene Details

Gene
HMG20B
Gene Name
high mobility group 20B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006339.2 327 Missense Mutation AAG,CAG K87Q NP_006330.2
XM_017026144.1 327 Missense Mutation AAG,CAG K87Q XP_016881633.1

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