Product Details

SNP ID
rs140600188
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48461052 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCAGAACATGGCCCCAATGGACA[C/T]GTTGGCCACGGCCTGCATCCTGCGC
Phenotype
MIM: 300649
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC38A5 PubMed Links

Gene Details

Gene
SLC38A5
Gene Name
solute carrier family 38 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033518.3 1064 Missense Mutation ATG,GTG M296V NP_277053.2
XM_005272694.3 1064 Missense Mutation ATG,GTG M343V XP_005272751.2
XM_005272695.4 1064 Missense Mutation ATG,GTG M343V XP_005272752.3
XM_005272697.2 1064 Missense Mutation ATG,GTG M302V XP_005272754.2
XM_005272698.4 1064 Missense Mutation ATG,GTG M296V XP_005272755.2
XM_006724569.3 1064 Missense Mutation ATG,GTG M296V XP_006724632.1
XM_017029960.1 1064 Missense Mutation ATG,GTG M302V XP_016885449.1
XM_017029961.1 1064 Missense Mutation ATG,GTG M296V XP_016885450.1

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