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): 1 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_032559.4 plus strand NP_115948.4 forward NT_010783.14 reference <- currently shown 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_010783.14 NM_032559.4 NP_115948.4 forward plus strand 11, 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_1 10553673 157 start codon 1 exon_1 10553711 195 rs7216557 N.D. synonymous G Leu [L] 3 13 contig reference C Leu [L] 3 13 10554002 486 rs17654267 0.015 synonymous C Arg [R] 3 110 contig reference T Arg [R] 3 110 10554007 491 rs3803824 0.291 missense T Val [V] 2 112 contig reference C Ala [A] 2 112 10554054 538 rs9912492 0.073 missense C Arg [R] 1 128 contig reference G Gly [G] 1 128 10554114 598 rs59657238 N.D. missense T Ser [S] 1 148 contig reference C Pro [P] 1 148 10554362 846 rs3803825 0.308 Yes synonymous G Leu [L] 3 230 contig reference A Leu [L] 3 230 10554524 1008 rs9913268 0.064 Yes synonymous T Ala [A] 3 284 contig reference C Ala [A] 3 284 10554663 1147 rs3803826 0.471 Yes synonymous T Leu [L] 1 331 contig reference C Leu [L] 1 331 10554921 1405 rs4561518 0.327 missense T Ser [S] 1 417 contig reference C Pro [P] 1 417 10554981 1465 rs4561519 0.322 missense G Gly [G] 1 437 contig reference C Arg [R] 1 437 10555530 2014 rs3826355 0.328 synonymous T Leu [L] 1 620 contig reference C Leu [L] 1 620

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Revised: May 25, 2006 1:38 PM .