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.
00ALFRED 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   3394421775
Val507Leurs3733808   339448272
rs40132rs40132   3395070378
rs2278007rs2278007   3395155178
Leu374Phers16891982   33951693183
rs35398rs35398   3395182678
rs1364038rs1364038   3395206178
rs185145rs185145   3395209278
rs185146rs185146   3395210678
Thr329Thrrs2287949   339545112
rs7729962rs7729962   3395518175
rs2113097rs2113097   3395525275
rs35391rs35391   3395567378
rs1364037rs1364037   3395853975
rs1010872rs1010872   3395891089
rs28777rs28777   33958959133
rs3776559rs3776559   3395962875
rs28117rs28117   33962770104
rs1423676rs1423676   3396287789
(AAC)n STRPrs10559212   339637412
Glu272Lysrs26722   3396387079
5-site haplotype   339638702
rs35408rs35408   3396493889
rs35411rs35411   3396613375
rs6451050rs6451050   3396832275
rs7718382rs7718382   3396889075
rs35414rs35414   33969628121
rs3756464rs3756464   33969694115
rs3776554rs3776554   3397081556
rs3822466rs3822466   3397103778
rs3776551rs3776551   3397317575
rs250413rs250413   3398256875
rs35388rs35388   3398337075

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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© 2018 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