Product Details

SNP ID

rs200441263

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:44275557 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACATGGCTGAAGATAAAAGCAAG[A/G]GAGACTCCATCGAGATGAGTATGAA

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	100	Missense Mutation	AGA,GGA	R8G	NP_000332.2
XM_011533047.2	100	Missense Mutation	AGA,GGA	R8G	XP_011531349.1

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