Product Details

SNP ID
rs141910715
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:20145866 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGGTCTCCATGGGGCAGTCCTGA[C/T]TCAGAATAGCCTGCAGAGAGAGGCA
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 1541 Missense Mutation AAT,AGT N492S NP_001129163.1
NM_001142324.1 1541 Missense Mutation AAT,AGT N460S NP_001135796.1
NM_001142325.1 1541 Silent Mutation GAA,GAG E447E NP_001135797.1
NM_003053.3 1541 Missense Mutation AAT,AGT N492S NP_003044.1
XM_011544625.1 1541 Missense Mutation AAT,AGT N464S XP_011542927.1
XM_011544626.1 1541 Missense Mutation AAT,AGT N460S XP_011542928.1
XM_011544627.1 1541 Silent Mutation GAA,GAG E447E XP_011542929.1

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