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NM_176817.5(TAS2R38):c.785= (p.Ala262=) AND Phenylthiocarbamide tasting

Significance: drug response
ClinVar: RCV000003039

Variant: NM_176817.5(TAS2R38):c.785= (p.Ala262=)

Type: Variant
Allele: NM_176817.5(TAS2R38):c.785= (p.Ala262=) 17944
Gene:
Type: single nucleotide variant
Location: Chr7: 141672705 - assembly GRCh37
Chr7: 141972905 - assembly GRCh38
References: dbSNP: 1726866
OMIM: 607751.0002

Condition

Finding: Phenylthiocarbamide tasting

Citation

    Certain haplotypes of polymorphisms within the PTC gene account for the ability to taste or not taste phenylthiocarbamide (see 171200). Kim et al. (2003) found one of these to be a 785T-C transition, resulting in a val262-to-ala (V262A) substitution (rs1726866).
PMID:12595690