Product Details

SNP ID

rs142178695

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:164898625 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCACCACAGCACCAATGGGAAGCA[C/T]GACACAAGACATAATCTTATCGGAG

Phenotype

MIM: 616526

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLC38A11 PubMed Links

Gene Details

Gene

SLC38A11

Gene Name

solute carrier family 38 member 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199148.1	1678	Missense Mutation	ATG,GTG	M345V	NP_001186077.1
NM_173512.2	1678	Missense Mutation	ATG,GTG	M323V	NP_775783.1
XM_005246350.4	1678	Missense Mutation	ATG,GTG	M401V	XP_005246407.1
XM_006712337.3	1678	Missense Mutation	ATG,GTG	M347V	XP_006712400.1
XM_011510737.2	1678	Missense Mutation	ATG,GTG	M379V	XP_011509039.1
XM_011510742.2	1678	Missense Mutation	ATG,GTG	M206V	XP_011509044.1
XM_017003455.1	1678	Missense Mutation	ATG,GTG	M427V	XP_016858944.1
XM_017003456.1	1678	Missense Mutation	ATG,GTG	M405V	XP_016858945.1
XM_017003457.1	1678	Missense Mutation	ATG,GTG	M402V	XP_016858946.1
XM_017003458.1	1678	Missense Mutation	ATG,GTG	M371V	XP_016858947.1
XM_017003459.1	1678	Missense Mutation	ATG,GTG	M349V	XP_016858948.1
XM_017003460.1	1678	Intron			XP_016858949.1
XM_017003461.1	1678	Intron			XP_016858950.1
XM_017003462.1	1678	Intron			XP_016858951.1
XM_017003463.1	1678	Missense Mutation	ATG,GTG	M279V	XP_016858952.1
XM_017003464.1	1678	Missense Mutation	ATG,GTG	M232V	XP_016858953.1
XM_017003465.1	1678	Missense Mutation	ATG,GTG	M232V	XP_016858954.1

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