Product Details

SNP ID

rs145061343

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:74422049 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGAGGAAAAGGAAAAAAATCGC[C/G]AAGTGGAGTTCCAAGCAGGTGAGTG

Phenotype

MIM: 300095

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SLC16A2 PubMed Links

Gene Details

Gene

SLC16A2

Gene Name

solute carrier family 16 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006517.4	557	Missense Mutation	CAA,GAA	Q138E	NP_006508.2

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