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_001080465.2 minus strand NP_001073934.1 reverse NT_010755.15 reference <- currently shown NM_001080465.2 minus strand NP_001073934.1 reverse NW_926828.1 Celera View snp on GeneModel NM_001080465.2 plus strand NP_001073934.1 forward NW_001838435.2 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_010755.15 NM_001080465.2 NP_001073934.1 reverse minus strand 4, 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 715840 363 rs3213769 0.024 synonymous C Pro [P] 3 121 contig reference G Pro [P] 3 121 exon_1 721757 182 rs7210156 0.155 missense T Leu [L] 2 61 contig reference C Pro [P] 2 61 721800 139 rs1685889 N.D. missense G Glu [E] 1 47 contig reference C Gln [Q] 1 47 721801 138 rs1685888 N.D. missense C His [H] 3 46 contig reference G Gln [Q] 3 46 exon_1 721938 1 start codon 1

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Revised: May 25, 2006 1:38 PM .