Product Details

SNP ID
rs190187808
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:189563809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAAGTCCAGGGGGCTTCCAGGCA[C/T]GAATACAGAGATCACACACAAGATC
Phenotype
MIM: 604653
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC40A1 PubMed Links

Gene Details

Gene
SLC40A1
Gene Name
solute carrier family 40 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014585.5 1663 Missense Mutation ATG,GTG M393V NP_055400.1
XM_005246505.1 1663 Missense Mutation ATG,GTG M353V XP_005246562.1
XM_017003938.1 1663 Missense Mutation ATG,GTG M353V XP_016859427.1

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