Variant: rs104886461 

    present in Gene: LOC105372261;MCOLN1
    present in Chromosome: 19
    Position on Chromosome: 7526759
    Alleles of this Variant: A/G

rs104886461 in LOC105372261;MCOLN1 gene and Mucolipidoses PMID 16645217 2006 Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.

PMID 10973263 2000 Identification of the gene causing mucolipidosis type IV.

PMID 19815695 2009 Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 23555759 2013 High-throughput carrier screening using TaqMan allelic discrimination.

rs104886461 in LOC105372261;MCOLN1 gene and Mucolipidosis Type IV PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 10973263 2000 Identification of the gene causing mucolipidosis type IV.

PMID 11013137 2000 Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.

PMID 16287144 2005 The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.

PMID 14749347 2004 Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

PMID 16645217 2006 Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.

PMID 19815695 2009 Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

PMID 11030752 2000 Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

PMID 17384215 2007 Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.