Product Details

SNP ID
rs200893951
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:177385814 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGTCCGTGGGGGGCATGTGATG[C/T]GAGGGACGGCCTTTGCCTACGTGCC
Phenotype
MIM: 182309
Polymorphism
C/T, Transition 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_001167579.1 120 Nonsense Mutation CGA,TGA R25* NP_001161051.1
NM_003052.4 120 Nonsense Mutation CGA,TGA R25* NP_003043.3
XM_005265975.1 120 Nonsense Mutation CGA,TGA R25* XP_005266032.1
XM_017009773.1 120 Nonsense Mutation CGA,TGA R25* XP_016865262.1
XM_017009774.1 120 Intron XP_016865263.1
XM_017009775.1 120 Nonsense Mutation CGA,TGA R25* XP_016865264.1

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