Product Details

SNP ID
rs143876748
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:107988201 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGATAGCTATCATCGTGTTCTAC[C/T]TTCTAATTTTGCTGGTTGGAATATG
Phenotype
MIM: 608761
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SLC5A7 PubMed Links

Gene Details

Gene
SLC5A7
Gene Name
solute carrier family 5 member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001305005.2 1232 Missense Mutation CTT,TTT L16F NP_001291934.1
NM_001305006.2 1232 Intron NP_001291935.1
NM_001305007.2 1232 UTR 5 NP_001291936.1
NM_021815.4 1232 Missense Mutation CTT,TTT L16F NP_068587.1
XM_011511580.2 1232 Intron XP_011509882.1
XM_017004628.1 1232 Missense Mutation CTT,TTT L16F XP_016860117.1
XM_017004629.1 1232 Intron XP_016860118.1

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