Product Details

SNP ID
rs149404030
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:20145843 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGGCTTCTGGGTTGCATACATCC[A/G]GGTCTCCATGGGGCAGTCCTGACTC
Phenotype
MIM: 193002
Polymorphism
A/G, 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 1564 Missense Mutation CGG,TGG R500W NP_001129163.1
NM_001142324.1 1564 Missense Mutation CGG,TGG R468W NP_001135796.1
NM_001142325.1 1564 Missense Mutation CCG,CTG P455L NP_001135797.1
NM_003053.3 1564 Missense Mutation CGG,TGG R500W NP_003044.1
XM_011544625.1 1564 Missense Mutation CGG,TGG R472W XP_011542927.1
XM_011544626.1 1564 Missense Mutation CGG,TGG R468W XP_011542928.1
XM_011544627.1 1564 Missense Mutation CCG,CTG P455L XP_011542929.1

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