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. 2000 Jul 5;67(2):405–416. doi: 10.1086/303012

Table 2.

NRAMP1 Haplotypes

Haplotype
Marker Location in NRAMP1 1 2 3 4 5
(GT)na,b,c 5′ Promoter region 286 286 288 288 286
77−385C/Td 5′ Promoter region C T C C C
274C/Ta Codon 66, exon 3 C C T C C
469+14G/Ca,c Intron 4 G G C G G
577−18G/Aa Intron 5 G G G G G
823C/Ta Codon 249, exon 8 C C C T T
A318Va Codon 318, exon 9 Ala Ala Ala Ala Ala
1465−85G/Aa Intron 13 G G A A A
D543Na,c Codon 543, exon 15 Asp Asn Asp Asn Asn
(CAAA)ne 3′ UTR 2 3 3 3 3
a

Name of variant as defined by Liu et al. (1995a); the nucleotides and codons were numbered according to the sequence of GenBank accession number L32185.

b

Microsatellite alleles are designated by size (in bp), SNPs by nucleotides, coding variants by amino acids, and the insertion/deletion polymorphism by number of repeat units.

c

Marker used in the case-control study of western Africans, by Bellamy et al. (1998).

d

SNP (Lewis et al. 1996) nucleotide 129 (see GenBank accession number U57604) or nucleotide 3247 (see GenBank accession number D63507), which is 385 bp preceding the A (nucleotide 77; see GenBank accession number L32185) in the initiation codon.

e

Insertion/deletion–polymorphism (Buu et al. 1995) nucleotides 1993–2000 (see GenBank accession number L32185) and nucleotides 269–280 (see GenBank accession number U26447).