Product Details

SNP ID
rs201904218
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:20147314 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTAGTAGCAGAGTGGAGCATAGA[C/T]GATGTTGATGACCCCAGTGATGACC
Phenotype
MIM: 193002
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC18A1 PubMed Links

Gene Details

Gene
SLC18A1
Gene Name
solute carrier family 18 member A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135691.2 1783 Missense Mutation ATC,GTC I470V NP_001129163.1
NM_001142324.1 1783 Missense Mutation ATC,GTC I438V NP_001135796.1
NM_001142325.1 1783 Intron NP_001135797.1
NM_003053.3 1783 Missense Mutation ATC,GTC I470V NP_003044.1
XM_011544625.1 1783 Missense Mutation ATC,GTC I442V XP_011542927.1
XM_011544626.1 1783 Missense Mutation ATC,GTC I438V XP_011542928.1
XM_011544627.1 1783 Intron XP_011542929.1

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