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_031889.1 plus strand NP_114095.1 forward NT_006216.14 reference <- currently shown NM_031889.1 plus strand NP_114095.1 forward NW_922162.1 Celera View snp on GeneModel NM_031889.1 plus strand NP_114095.1 forward NW_001838914.1 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_006216.14 NM_031889.1 NP_114095.1 forward plus strand 13, 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 2228 282 start codon 1 exon_9 15098 1226 rs34852006 0.027 synonymous C Asn [N] 3 315 contig reference T Asn [N] 3 315 15391 1519 rs34684987 N.D. frame shift G [Ter[*]] 2 413 contig reference - 2 413 15879 2007 rs2609428 0.106 missense C Leu [L] 1 576 contig reference T Phe [F] 1 576 15893 2021 rs35908231 N.D. frame shift G Gln [Q] 3 580 contig reference - 3 580 15978 2106 rs34706150 N.D. frame shift G Gly [G] 1 609 contig reference - 1 609 16079 2207 rs6813313 0.044 synonymous T Thr [T] 3 642 contig reference C Thr [T] 3 642 16096 2224 rs7671281 0.271 missense C Thr [T] 2 648 contig reference T Ile [I] 2 648 16324 2452 rs3796703 0.065 missense T Leu [L] 2 724 contig reference C Pro [P] 2 724 16394 2522 rs36064169 0.056 synonymous T Tyr [Y] 3 747 contig reference C Tyr [Y] 3 747 16441 2569 rs3796704 0.186 missense A Gln [Q] 2 763 contig reference G Arg [R] 2 763 16453 2581 rs3796705 0.015 missense G Gly [G] 2 767 contig reference A Asp [D] 2 767 17430 3558 rs35951442 0.027 missense T Ser [S] 1 1093 contig reference C Pro [P] 1 1093 17578 3706 rs35161973 N.D. frame shift - 2 1142 contig reference C Ala [A] 2 1142

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Revised: May 25, 2006 1:38 PM .