Product Details

SNP ID
rs144593775
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:73595163 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGTAAAGAAAATGGCACCAAAAA[C/G]ATTAATAGCAGCAGCAATATAGAAC
Phenotype
MIM: 604322
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SLC17A5 PubMed Links

Gene Details

Gene
SLC17A5
Gene Name
solute carrier family 17 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012434.4 1340 Missense Mutation CTT,GTT L468V NP_036566.1
XM_005248710.3 1340 Missense Mutation CTT,GTT L451V XP_005248767.1
XM_005248711.2 1340 Missense Mutation CTT,GTT L402V XP_005248768.1
XM_011535750.2 1340 UTR 3 XP_011534052.1
XM_017010730.1 1340 Missense Mutation CTT,GTT L337V XP_016866219.1
XM_017010731.1 1340 Missense Mutation CTT,GTT L337V XP_016866220.1

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