β-globin gene SNPs

This is a table containing SNPs found on the β-globin gene in chromosome 11.

Legend to the beta-globin gene SNP database

Traditional numbering: based on the numbering of the beta globin gene where the ACA of the CAP site is number “+1”; all nucleotides before the ACA are numbered with a minus sign before. Exonic mutations are indicated by codon triplet number and base change and intronic mutations by numbering the nucleotides of the intron from the 5’ to 3’ end i.e. IVSII-16 refers to the 16^th nucleotide of the second intron.

NCBI nucleotide no.extended HS-111 to3'HS1: The nucleotide number based on the extended sequence of the beta gene cluster from HS-111 to 3’HS1 in the NCBI database.

NCBI nucleotide no. based on U01317: The nucleotide number based on the sequence U01317 in the NCBI database.

rs number = RefSNP accession identifcation (ID) number for assigned to each submitted SNP (see dbSNP at http://www.ncbi.nlm.nih.gov/SNP/index.html)

Flanking sequence: 25bases exactly preceding and exactly following the position of the SNP

ROH= rate of heterozygosity observed for the SNP, usually in a defined population group