ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	LO000231G	SLC6A4	17	17q11.1-q12

Synonyms: HTT ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM description GenBank sequence SERT protein structure PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: The human serotonin transporter protein (SERT) encoded by the SLC6A4 gene is the cellular reuptake site for serotonin and a site of action for several drugs with central nervous system effects, including both therapeutic agents (e.g., antidepressants) and drugs of abuse (e.g., cocaine) (Gelernter et al., 1995) [PubMed ID: 7789954]. SERT allows neurons to retrieve serotonin that has been released into a synapse. SERT is a 630 amino acid protein with twelve transmembrane domains and is a member of the Na+/Cl- dependent transporter family (Ramamoorthy et al., 1993) [PubMed ID: 7681602]. The SLC6A4 was cloned by Blakely et al. [PubMed ID: 1944572] and Hoffman et al. [PubMed ID: 1948036] in 1991. The SLC6A4 gene spans >35 kb and consists of 14 exons (Lesch et al., 1993, [PubMed ID: 8452685] and Lesch et al., 1994 [PubMed ID: 7865169]). Ramamoorthy et al. (1993) assigned the SLC6A4 locus to chromosome 17q11.1-q12 by somatic cell hybrid and in situ hybridization studies [PubMed ID: 7681602]. Gelernter et al. (1995) [PubMed ID: 7789954] reported the SLC6A4 locus is near 17q12 and flanked by D17S58 and D17S73 by using a PstI RFLP, pairwise linkage analysis and multipoint analysis.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:

Site Name (Navigates to ALFRED description)	dbSNP rs# (Navigates to dbSNP reference page)	Chr-Position	# Populations typed
rs1042173	rs1042173	28525011	78
rs3794808	rs3794808	28531793	80
C___7911143_10	rs140701	28538532	44
rs140700	rs140700	28543389	51
rs6354	rs6354	28549898	85
C___1841702_10	rs2066713	28551665	79
rs4251417	rs4251417	28551858	50
rs8071667	rs8071667	28552773	88
rs16965623	rs16965623	28552986	50
VNTR intron 2			27

References:
- Blakely RD, Berson HE, Fremeau RT Jr, Caron MG, Peek MM, Prince HK, Bradley CC. "Cloning and expression of a functional serotonin transporter from rat brain". Nature 354:66-70. (1991) Online citation.

- Gelernter J, Pakstis AJ, Kidd KK. "Linkage mapping of serotonin transporter protein gene (SLC6A4) on chromosome 17". Hum. Genet. 95:677-80. (1995) Online citation.

- Hoffman BJ, Mezey E, Brownstein MJ. "Cloning of a serotonin transporter affected by antidepressants". Science 254:579-80. (1991) Online citation.

- Lesch KP, Balling U, Gross J, Strauss K, Wolozin BL, Murphy DL, Riederer P. "Organization of the human serotonin transporter gene". J. Neural. Transm. Gen. Sect. 95:157-62. (1994) Online citation.

- Lesch KP, Wolozin BL, Estler HC, Murphy DL, Riederer P. "Isolation of a cDNA encoding the human brain serotonin transporter". J. Neural. Transm. Gen. Sect. 91:67-72. (1993) Online citation.

- Ramamoorthy S, Bauman AL, Moore KR, Han H, Yang-Feng T, Chang AS, Ganapathy V, Blakely RD. "Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization". Proc. Natl. Acad. Sci. U. S. A. 90:2542-6. (1993) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan