Product Details

SNP ID

rs13306754

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:42927117 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCACTTTGGCTGGCTCCCCCCTGC[A/C]GGAAGCCGGAAGCGATCTCATCGAA

Phenotype

MIM: 138140 MIM: 143090

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SLC2A1 PubMed Links

Gene Details

Gene

SLC2A1

Gene Name

solute carrier family 2 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006516.2	1928	Missense Mutation	CGG,CTG	R468L	NP_006507.2

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