Product Details

SNP ID
rs200982250
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:189562097 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGCAGAAGATCAAGAAGATAGTT[C/T]ATGGAGTTCTGTACACCATTTATAA
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 1983 Missense Mutation ATA,ATG I499M NP_055400.1
XM_005246505.1 1983 Missense Mutation ATA,ATG I459M XP_005246562.1
XM_017003938.1 1983 Missense Mutation ATA,ATG I459M XP_016859427.1

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