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_002309.2 minus strand NP_002300.1 reverse NT_011520.11 reference <- currently shown NM_002309.2 minus strand NP_002300.1 reverse NW_927628.1 Celera View snp on GeneModel NM_002309.2 minus strand NP_002300.1 reverse NW_001838745.1 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_011520.11 NM_002309.2 NP_002300.1 reverse minus strand 3, 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_3 10030419 463 rs2412982 N.D. Yes synonymous T Leu [L] 3 133 contig reference C Leu [L] 3 133 10030474 408 rs2412983 N.D. missense T Phe [F] 2 115 contig reference C Ser [S] 2 115 10030562 320 rs41281637 N.D. missense A Met [M] 1 86 contig reference G Val [V] 1 86 exon_1 10033253 65 start codon 1

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Revised: May 25, 2006 1:38 PM .