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_014960.2 plus strand NP_055775.2 forward NT_010641.15 reference <- currently shown NM_014960.2 plus strand NP_055775.2 forward NW_926918.1 Celera View snp on GeneModel NM_014960.2 minus strand NP_055775.2 reverse NW_001838454.2 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_010641.15 NM_014960.2 NP_055775.2 forward plus strand 9, 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 229907 40 start codon 1 exon_1 229938 71 rs8074806 0.386 missense T Val [V] 2 11 contig reference C Ala [A] 2 11 exon_6 290963 746 rs1558876 0.371 missense G Ser [S] 2 236 contig reference C Thr [T] 2 236 291021 804 rs1558877 0.500 Yes synonymous C Pro [P] 3 255 contig reference T Pro [P] 3 255 291076 859 rs1558878 0.462 missense C Arg [R] 1 274 contig reference T Trp [W] 1 274 exon_7 292906 990 rs34336928 N.D. frame shift C Val [V] 3 317 contig reference - 3 317 exon_9 317504 1149 rs7342975 0.222 Yes synonymous G Pro [P] 3 370 contig reference A Pro [P] 3 370 317548 1193 rs9972951 0.210 missense A His [H] 2 385 contig reference G Arg [R] 2 385 317586 1231 rs11657051 N.D. missense T Trp [W] 1 398 contig reference C Arg [R] 1 398 exon_11 342783 1524 rs35268505 0.087 Yes synonymous T Asn [N] 3 495 contig reference C Asn [N] 3 495

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Revised: May 25, 2006 1:38 PM .