Product Details

SNP ID
rs200143000
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219629243 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCCCCCCACCTCTGCCCGGCACA[C/T]CAGGAGAAAGAGGAAGAAGGAGAAA
Phenotype
MIM: 106195
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC4A3 PubMed Links

Gene Details

Gene
SLC4A3
Gene Name
solute carrier family 4 member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001326559.1 717 Missense Mutation ACC,ATC T106I NP_001313488.1
NM_005070.3 717 Missense Mutation ACC,ATC T106I NP_005061.2
NM_201574.2 717 Missense Mutation ACC,ATC T106I NP_963868.2
XM_005246789.4 717 Missense Mutation ACC,ATC T106I XP_005246846.1
XM_005246790.4 717 Intron XP_005246847.1
XM_011511665.2 717 Missense Mutation ACC,ATC T53I XP_011509967.1
XM_011511667.2 717 Intron XP_011509969.1

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