rs# on all gene models to Batch Query all rs# to file.   Gene Model (mRNA alignment) information from genome sequence Total gene model (contig mRNA transcript): 3 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_031284.3 minus strand NP_112574.3 reverse NT_010194.16 reference <- currently shown NM_031284.3 minus strand NP_112574.3 reverse NW_925884.1 Celera View snp on GeneModel NM_031284.3 plus strand NP_112574.3 forward NW_001838218.2 HuRef View snp on GeneModel Include clinically associated in gene region cSNP has frequency double hit gene model (contig mRNA transcript): Contig Label Contig mrna protein mrna orientation transcript snp count reference NT_010194.16 NM_031284.3 NP_112574.3 reverse minus strand 4, coding Color Legend Region Contig position mRNA pos dbSNP rs# cluster id Hetero- zygosity Validation 3D Clinically Associated Function dbSNP allele Protein residue Codon pos Amino acid pos PubMed exon_7 43835181 1339 rs34149613 0.188 missense T Leu [L] 2 437 contig reference C Ser [S] 2 437 exon_4 43843158 580 rs8024644 N.D. missense G Arg [R] 2 184 contig reference A Lys [K] 2 184 43843163 575 rs8023358 0.331 Yes synonymous C Gly [G] 3 182 contig reference T Gly [G] 3 182 exon_2 43857552 467 rs11634630 0.074 Yes synonymous G Ala [A] 3 146 contig reference A Ala [A] 3 146 exon_1 43866350 30 start codon 1

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Revised: May 25, 2006 1:38 PM .