Product Details

SNP ID
rs148049520
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:6687650 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCAGCATGATGTACAGCGGATTG[A/C]GGCCGATGGAGCGAGACTGCGGAAA
Phenotype
MIM: 608305
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SLC13A5 PubMed Links

Gene Details

Gene
SLC13A5
Gene Name
solute carrier family 13 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143838.2 1413 Intron NP_001137310.1
NM_001284509.1 1413 Missense Mutation CGC,CTC R468L NP_001271438.1
NM_001284510.1 1413 Missense Mutation CGC,CTC R442L NP_001271439.1
NM_177550.4 1413 Missense Mutation CGC,CTC R485L NP_808218.1
XM_011523795.2 1413 UTR 3 XP_011522097.1

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