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