Product Details

SNP ID

rs138597262

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:44275857 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCATCGCGGCCACCATAGCCATC[A/G]TTGCCCTCTCTCCAAAGTGCCTAGA

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	400	Missense Mutation	ATT,GTT	I108V	NP_000332.2
XM_011533047.2	400	Missense Mutation	ATT,GTT	I108V	XP_011531349.1

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