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_020731.3 plus strand NP_065782.2 forward NT_006576.15 reference <- currently shown NM_020731.3 plus strand NP_065782.2 forward NW_922496.1 Celera View snp on GeneModel NM_020731.3 minus strand NP_065782.2 reverse NW_001838923.2 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_006576.15 NM_020731.3 NP_065782.2 forward plus strand 9, 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 294335 45 start codon 1 exon_4 366809 385 rs35008248 0.208 missense C Pro [P] 2 114 contig reference T Leu [L] 2 114 exon_6 412873 527 rs4987100 0.020 synonymous T Asp [D] 3 161 contig reference C Asp [D] 3 161 412882 536 rs2671894 0.010 synonymous T His [H] 3 164 contig reference C His [H] 3 164 412955 609 rs2292596 0.425 missense G Ala [A] 1 189 contig reference C Pro [P] 1 189 exon_8 417780 793 rs34071983 0.027 missense A Gln [Q] 2 250 contig reference G Arg [R] 2 250 exon_11 423056 1216 rs2303738 0.051 missense T Val [V] 2 391 contig reference G Gly [G] 2 391 exon_12 424219 1474 rs35756515 0.026 missense T Leu [L] 2 477 contig reference C Pro [P] 2 477 424433 1688 rs35797996 0.026 synonymous A Thr [T] 3 548 contig reference G Thr [T] 3 548 424722 1977 rs34453673 0.428 missense C His [H] 1 645 contig reference G Asp [D] 1 645

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Revised: May 25, 2006 1:38 PM .