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
Dystrobrevin binding protein 1	LO000618P	DTNBP1	6	p22.3

Synonyms: SDY ; HPS7 ; My031 ; FLJ30031 ; MGC20210 ; DKFZP564K192 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM Locus Description GDB Gene Information GenBank mRNA sequence GenBank sequence PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene.
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
C___7460562_10	rs1047631	15523101	78
rs742106	rs742106	15524480	51
rs2056943	rs2056943	15524563	50
rs4712253	rs4712253	15526417	50
C___2462484_10	rs9296978	15528367	43
rs9296980	rs9296980	15532594	50
C___2462480_10	rs11753919	15533733	77
rs4236167	rs4236167	15533951	51
rs875462	rs875462	15538436	51
rs9396592	rs9396592	15539010	51
C___2462469_10	rs2056942	15542298	43
C___2462468_10	rs2056941	15542383	43
rs12527121	rs12527121	15546213	50
rs1040410	rs1040410	15547476	14
rs9370823	rs9370823	15550658	51
rs9296983	rs9296983	15555426	51
C___3114569_10	rs2619529	15580398	43
C___2462460_10	rs6926401	15586009	43
C___2462458_10	rs9476858	15586183	43
rs9296985	rs9296985	15590015	51
rs9396593	rs9396593	15592559	51
rs12199640	rs12199640	15598880	50
C___3114552_10	rs11759609	15599899	43
rs7752070	rs7752070	15604919	51
rs7770921	rs7770921	15605114	51
rs3829893	rs3829893	15615637	51
C___3114547_10	rs12524690	15616897	43
C___3114544_10	rs2743869	15625484	43
rs11962577	rs11962577	15626326	50
rs12525702	rs12525702	15627771	50
E_rs3213207_10	rs3213207	15628102	43
E_rs1011313_10	rs1011313	15633432	78
C___3114533_10	rs2743864	15640281	43
E__rs760761_10	rs760761	15651132	53
DTNBP1 gene LI SNPs 3-site haplotype	rs760761	15651132	0
C___3114526_10	rs2619522	15653649	55
rs1474605	rs1474605	15658212	87
rs1997679	rs1997679	15658905	51
C___7460518_10	rs909706	15660871	58

References:
- Straub RE, Jiang Y, MacLean CJ, Ma Y, Webb BT, Myakishev MV, Harris-Kerr C, Wormley B, Sadek H, Kadambi B, Cesare AJ, Gibberman A, Wang X, O'Neill FA, Walsh D, Kendler KS. "Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia". Am J Hum Genet. 71:337-48. (2002) 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