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_001001563.1 plus strand NP_001001563.1 forward NT_011109.15 reference <- currently shown NM_001001563.1 plus strand NP_001001563.1 forward NW_927217.1 Celera View snp on GeneModel NM_001001563.1 plus strand NP_001001563.1 forward NW_001838496.1 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_011109.15 NM_001001563.1 NP_001001563.1 forward plus strand 6, 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 12239403 134 start codon 1 exon_1 12239650 381 rs2304220 0.156 missense C Thr [T] 2 83 contig reference G Ser [S] 2 83 12239737 468 rs35135520 0.030 missense G Trp [W] 2 112 contig reference C Ser [S] 2 112 exon_2 12240797 607 rs11545198 0.029 synonymous A Pro [P] 3 158 contig reference G Pro [P] 3 158 exon_6 12244613 882 rs11545197 N.D. missense T Leu [L] 2 250 contig reference C Pro [P] 2 250 exon_10 12247448 1347 rs10240 N.D. missense A Asp [D] 2 405 contig reference C Ala [A] 2 405 12247469 1368 rs11545196 N.D. missense T Val [V] 2 412 contig reference C Ala [A] 2 412

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Revised: May 25, 2006 1:38 PM .