Rs1800532

Last updated

SNP: rs1800532
Name(s) A218C
Gene TPH1
Chromosome 11
Region Intron 7
External databases
Ensembl Human SNPView
dbSNP 1800532
HapMap 1800532
SNPedia 1800532

In genetics, rs1800532 (A218C) is a genetic variant. It is a single nucleotide polymorphism in the TPH1 gene and located in intron 7.

Genetics Science of genes, heredity, and variation in living organisms

Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms.

TPH1 protein-coding gene in the species Homo sapiens

Tryptophan hydroxylase 1 (TPH1) is an isoenzyme of tryptophan hydroxylase which in humans is encoded by the TPH1 gene.

An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product. The word intron is derived from the term intragenic region, i.e. a region inside a gene. The term intron refers to both the DNA sequence within a gene and the corresponding sequence in RNA transcripts. Sequences that are joined together in the final mature RNA after RNA splicing are exons. Introns are found in the genes of most organisms and many viruses, and can be located in a wide range of genes, including those that generate proteins, ribosomal RNA (rRNA), and transfer RNA (tRNA). When proteins are generated from intron-containing genes, RNA splicing takes place as part of the RNA processing pathway that follows transcription and precedes translation.

It has been examined in relation to personality traits. [1] [2] [3]

A779C is another SNP in same intron.

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References

  1. Shih-Jen Tsai, Ying-Chieh Wang, Jen-Yeu Chen & Chen-Jee Hong (2003). "Allelic variants of the tryptophan hydroxylase (A218C) and serotonin 1B receptor (A-161T) and personality traits". Neuropsychobiology . 48 (2): 68–71. doi:10.1159/000072879. PMID   14504413.
  2. Ion Anghelescu, Christoph Klawe, Christoph Fehr, Peter Singer, Alexandra Schleicher, Hubertus Himmerich, Christoph Hiemke, Norbert Dahmen & Armin Szegedi (July 2005). "The TPH intron 7 A218C polymorphism and TCI dimension scores in alcohol-dependent patients: hints to nonspecific psychopathology". Addictive behaviors . 30 (6): 1135–43. doi:10.1016/j.addbeh.2004.11.002. PMID   15925123.
  3. Akihito Suzuki, Takashi Fukasawa, Hiroaki Shiraishi, Genki Ishii, Shingo Oshino, Toshiaki Aoshima & Koichi Otani (March 2007). "No association between the TPH A218C polymorphism and personality traits in Japanese healthy subjects". Progress in Neuro-Psychopharmacology & Biological Psychiatry . 31 (2): 395–398. doi:10.1016/j.pnpbp.2006.10.003. PMID   17116352.