Product Details

SNP ID

hCV27540391

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:44275899 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCCTAGACTGGTGGCAGGAGGGG[C/T]CCATGTACCAGATCTACCCAAGGTC

Phenotype

MIM: 104614

Polymorphism

C/T, 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	442	Missense Mutation	CCC,TCC	P122S	NP_000332.2

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