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_001080426.1 plus strand NP_001073895.1 forward NT_004487.18 reference <- currently shown NM_001080426.1 plus strand NP_001073895.1 forward NW_926128.1 Celera View snp on GeneModel NM_001080426.1 minus strand NP_001073895.1 reverse NW_001838532.2 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_004487.18 NM_001080426.1 NP_001073895.1 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 17554442 1 start codon 1 exon_4 17578933 530 rs34315885 N.D. frame shift - 2 177 contig reference A Glu [E] 2 177 exon_5 17585518 795 rs267745 0.330 missense C Asp [D] 3 265 contig reference G Glu [E] 3 265 17586120 1397 rs6668826 0.498 missense A His [H] 2 466 contig reference G Arg [R] 2 466 17586236 1513 rs3795605 0.499 missense A Thr [T] 1 505 contig reference G Ala [A] 1 505 17586648 1925 rs61103736 N.D. missense G Cys [C] 2 642 contig reference C Ser [S] 2 642 17586928 2205 rs60430724 N.D. frame shift - 3 735 contig reference T Leu [L] 3 735 17587286 2563 rs267746 0.401 missense C Gln [Q] 1 855 contig reference A Lys [K] 1 855 17587688 2965 rs35440343 N.D. frame shift T Tyr [Y] 1 989 contig reference - 1 989 17588094 3371 rs2281959 0.494 missense A Asn [N] 2 1124 contig reference C Thr [T] 2 1124

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Revised: May 25, 2006 1:38 PM .