Product Details

SNP ID
rs78562123
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:133636519 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCCGTGAGAGCCCCCTCCCCTAT[C/T]ACATCCCCCTGGACCCGGAGGGGTC
Phenotype
MIM: 609312
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DBH PubMed Links

Gene Details

Gene
DBH
Gene Name
dopamine beta-hydroxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000787.3 157 Missense Mutation CAC,TAC H50Y NP_000778.3

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