Product Details

SNP ID
rs199619470
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:46775658 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTTGTATCAACTCAGGCTCTGTG[A/C]TTCTCGACTCCGTACGGTCCACGTA
Phenotype
MIM: 109190
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SLC1A5 PubMed Links

Gene Details

Gene
SLC1A5
Gene Name
solute carrier family 1 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145144.1 1152 Missense Mutation AGC,ATC S265I NP_001138616.1
NM_001145145.1 1152 Missense Mutation AGC,ATC S291I NP_001138617.1
NM_005628.2 1152 Missense Mutation AGC,ATC S493I NP_005619.1
XM_005259167.4 1152 Intron XP_005259224.1

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