Product Details

SNP ID
rs142926590
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:25913324 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTGTAACTTTATGTCCTCAGAGG[C/T]GGGTAAGGGTCCTCTCTTTGGCCCA
Phenotype
MIM: 611049
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC17A2 PubMed Links

Gene Details

Gene
SLC17A2
Gene Name
solute carrier family 17 member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286123.1 1850 Missense Mutation CAC,CGC H477R NP_001273052.1
NM_001286125.1 1850 UTR 3 NP_001273054.1
NM_005835.3 1850 Missense Mutation ACC,GCC T428A NP_005826.1
XM_005248784.2 1850 Missense Mutation CAC,CGC H477R XP_005248841.1
XM_006714949.3 1850 Missense Mutation CAC,CGC H477R XP_006715012.1
XM_006714950.2 1850 Missense Mutation CAC,CGC H454R XP_006715013.1
XM_006714951.1 1850 UTR 3 XP_006715014.1
XM_017010159.1 1850 Missense Mutation CAC,CGC H454R XP_016865648.1
XM_017010160.1 1850 Intron XP_016865649.1

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