Product Details

SNP ID
rs138810807
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:137970189 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATTGGAGACACAAAATCAGAAAT[A/T]AAGATTCTAAGCATAGGCGGAGGTG
Phenotype
MIM: 605238
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
HNMT PubMed Links

Gene Details

Gene
HNMT
Gene Name
histamine N-methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001024074.2 249 Intron NP_001019245.1
NM_001024075.1 249 Silent Mutation ATA,ATT I54I NP_001019246.1
NM_006895.2 249 Silent Mutation ATA,ATT I54I NP_008826.1
XM_011511064.2 249 Intron XP_011509366.1
XM_017003948.1 249 Silent Mutation ATA,ATT I20I XP_016859437.1
XM_017003949.1 249 Silent Mutation ATA,ATT I54I XP_016859438.1

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