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_024836.1 plus strand NP_079112.1 forward NT_032968.7 reference <- currently shown NM_024836.1 plus strand NP_079112.1 forward NW_927683.1 Celera View snp on GeneModel NM_024836.1 minus strand NP_079112.1 reverse NW_001838557.2 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_032968.7 NM_024836.1 NP_079112.1 forward plus strand 7, 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 83264 696 start codon 1 exon_4 83395 827 rs58551648 N.D. Yes synonymous T Cys [C] 3 44 contig reference C Cys [C] 3 44 83572 1004 rs12038641 N.D. Yes synonymous T Thr [T] 3 103 contig reference A Thr [T] 3 103 83658 1090 rs34336526 N.D. frame shift T Leu [L] 2 132 contig reference - 2 132 83959 1391 rs58906520 N.D. synonymous T Cys [C] 3 232 contig reference C Cys [C] 3 232 84175 1607 rs13985 N.D. Yes synonymous T Ile [I] 3 304 contig reference C Ile [I] 3 304 84358 1790 rs12036787 N.D. Yes synonymous A Lys [K] 3 365 contig reference G Lys [K] 3 365 84399 1831 rs1138457 N.D. missense A Asp [D] 2 379 contig reference C Ala [A] 2 379

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Revised: May 25, 2006 1:38 PM .