Product Details

SNP ID
rs147095485
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:177386449 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGTGGCTGGTGACATCTTCAAG[G/T]ATAACGCCATCCTGTCCAACCCGGT
Phenotype
MIM: 182309
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SLC34A1 PubMed Links

Gene Details

Gene
SLC34A1
Gene Name
solute carrier family 34 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167579.1 462 Missense Mutation GAT,TAT D139Y NP_001161051.1
NM_003052.4 462 Missense Mutation GAT,TAT D139Y NP_003043.3
XM_005265975.1 462 Missense Mutation GAT,TAT D139Y XP_005266032.1
XM_017009773.1 462 Missense Mutation GAT,TAT D139Y XP_016865262.1
XM_017009774.1 462 Intron XP_016865263.1
XM_017009775.1 462 Missense Mutation GAT,TAT D139Y XP_016865264.1

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