Product Details

SNP ID

rs142000161

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:46766704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGAAAGTATTTTTCCTTGTGTTA[A/G]TGATGCTTGGAATTTGGAGGATCAT

Phenotype

MIM: 608065

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SLC38A4 PubMed Links

Gene Details

Gene

SLC38A4

Gene Name

solute carrier family 38 member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143824.1	2040	Silent Mutation	CAC,CAT	H547H	NP_001137296.1
NM_018018.4	2040	Silent Mutation	CAC,CAT	H547H	NP_060488.2
XM_005268997.2	2040	Silent Mutation	CAC,CAT	H547H	XP_005269054.1

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