A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

American Journal of Human Genetics

Volumn 82, Issue 2, 2008, Pages 424-431

  Sturm, Richard A ^a   Duffy, David L ^b   Zhao, Zhen Zhen ^b   Leite, Fabio P N ^b   Stark, Mitchell S ^b   Hayward, Nicholas K ^b   Martin, Nicholas G ^b   Montgomery, Grant W ^b  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE LIKE TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; CARRIER PROTEIN; DNA BINDING PROTEIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HERC2 PROTEIN, HUMAN; OCA2 PROTEIN, HUMAN; SMARCA3 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BINDING SITE; EUROPE; EYE COLOR; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HERC2 GENE; HUMAN; INTRON; MELANOCYTE; MELANOMA; MOLECULAR EVOLUTION; NUCLEOTIDE SEQUENCE; OCA2 GENE; PENETRANCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME MAP; DNA SEQUENCE; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETICS; GENOTYPE; METABOLISM; MOLECULAR GENETICS; SEQUENCE ALIGNMENT; TWINS;

NEMOPHILA; PSEUDOMUGILIDAE;

ADOLESCENT; BASE SEQUENCE; CHROMOSOME MAPPING; CONSERVED SEQUENCE; DNA-BINDING PROTEINS; EYE COLOR; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENOTYPE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INTRONS; LOD SCORE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; TWINS;

EID: 40749158014     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.11.005     Document Type: Article

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