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

NameALFRED UIDLocus SymbolChromosomeBand Position
Solute carrier family 45, member 2LO002895YSLC45A25p13.3
Synonyms: 1A1 ; AIM1 ; MATP ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   Entrez Gene Locus Information   OMIM Locus Description    UniGene   GenBank Sequence   
References: See References
Locus Description: The human membrane-associated transporter protein (MATP) gene, also known as the antigen in melanoma-1 (AIM1) gene, spans 40 kb on chromosome 5p and consists of 7 exons, encoding a 530-amino acid polypeptide. The human MATP gene is associated with pigmentation and is responsible for oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.
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-PositionStatus# Populations
typed
rs10461928rs10461928   3394421750
Val507Leurs3733808   339448272
rs40132rs40132   3395070350
Leu374Phers16891982   33951693125
Thr329Thrrs2287949   339545112
rs7729962rs7729962   3395518150
rs2113097rs2113097   3395525250
rs35391rs35391   3395567350
rs1364037rs1364037   3395853950
rs28777rs28777   3395895982
rs3776559rs3776559   3395962850
rs28117rs28117   3396277050
(AAC)n STRPrs10559212   339637412
5-site haplotype   339638702
Glu272Lysrs26722   3396387050
rs35408rs35408   3396493850
rs35411rs35411   3396613350
rs6451050rs6451050   3396832250
rs7718382rs7718382   3396889050
rs35414rs35414   3396962851
rs3756464rs3756464   3396969450
rs3822466rs3822466   3397103750
rs3776551rs3776551   3397317550
rs250413rs250413   3398256850
rs35388rs35388   3398337050

References:
- Graf J, Hodgson R, van Daal A. "Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation". Hum Mutat. 25:278-84. (2005) Online citation.

- Shriver MD, Mei R, Parra EJ, Sonpar V, Halder I, Tishkoff SA, Schurr TG, Zhadanov SI, Osipova LP, Brutsaert TD, Friedlaender J, Jorde LB, Watkins WS, Bamshad MJ, Gutierrez G, Loi H, Matsuzaki H, Kittles RA, Argyropoulos G, Fernandez JR, Akey JM, Jones KW. "Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation". Hum Genomics. 2:81-89. (2005) 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