Product Details

SNP ID
rs200597118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17874151 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCCTTGCAGTACCTGGAGATGC[A/G]CTTCAGCCGCGCAGTGCGGCTCTGC
Phenotype
MIM: 601843
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SLC5A5 PubMed Links

Gene Details

Gene
SLC5A5
Gene Name
solute carrier family 5 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000453.2 1297 Missense Mutation CAC,CGC H124R NP_000444.1
XM_011528192.2 1297 Missense Mutation CAC,CGC H124R XP_011526494.1
XM_011528193.2 1297 Missense Mutation CAC,CGC H35R XP_011526495.1
XM_011528194.2 1297 Missense Mutation CAC,CGC H2R XP_011526496.1
XM_017027158.1 1297 Missense Mutation CAC,CGC H35R XP_016882647.1

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