Variant: rs104894131 

    present in Gene: XPA
    present in Chromosome: 9
    Position on Chromosome: 97689600
    Alleles of this Variant: C/A;T

rs104894131 in XPA gene and Xeroderma pigmentosum, group A PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PMID 1372103 1992 Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.

PMID 8504220 1993 The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene.

PMID 9671271 1998 Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.

PMID 1339397 1992 Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.