Product Details

SNP ID
rs147004629
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:44275552 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGTGAGACATGGCTGAAGATAAAA[A/G]CAAGAGAGACTCCATCGAGATGAGT
Phenotype
MIM: 104614
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SLC3A1 PubMed Links

Gene Details

Gene
SLC3A1
Gene Name
solute carrier family 3 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000341.3 95 Missense Mutation AAC,AGC N6S NP_000332.2
XM_011533047.2 95 Missense Mutation AAC,AGC N6S XP_011531349.1

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