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_006010.2 plus strand NP_006001.2 forward NT_022517.17 reference <- currently shown NM_006010.2 plus strand NP_006001.2 forward NW_921651.1 Celera View snp on GeneModel NM_006010.2 minus strand NP_006001.2 reverse NW_001838877.2 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_022517.17 NM_006010.2 NP_006001.2 forward plus strand 5, 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 51362805 63 start codon 1 exon_1 51362806 64 rs13091931 N.D. missense T Met [M] 2 1 contig reference G Arg [R] 2 1 51362809 67 rs13091932 N.D. missense A Lys [K] 2 2 contig reference G Arg [R] 2 2 51362812 70 rs61570769 N.D. synonymous - 2 3 contig reference GGA 2 3 exon_4 51366507 567 rs34659596 N.D. frame shift A Lys [K] 1 169 contig reference - 1 169 51366559 619 rs11538558 N.D. nonsense G Trp [W] 2 186 contig reference A [Ter[*]] 2 186

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Revised: May 25, 2006 1:38 PM .