Product Details

SNP ID
rs200712598
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:1394741 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTTCGTCTCTGCTCCCTCTACAC[C/G]TTGAGCCAGTGGCGGAGCTGGAAAG
Phenotype
MIM: 126455
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SLC6A3 PubMed Links

Gene Details

Gene
SLC6A3
Gene Name
solute carrier family 6 member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001044.4 1983 Missense Mutation AAC,AAG N619K NP_001035.1

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