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): 2 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_020407.2 plus strand NP_065140.2 forward NT_004487.18 reference <- currently shown NM_020407.2 minus strand NP_065140.2 reverse NW_001838531.2 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_004487.18 NM_020407.2 NP_065140.2 forward plus strand 12, 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 6829396 39 start codon 1 exon_2 6837486 265 rs2245623 0.361 missense A Asp [D] 2 76 contig reference G Gly [G] 2 76 6837608 387 rs12567720 N.D. missense T Cys [C] 1 117 contig reference G Gly [G] 1 117 exon_3 6838189 466 rs11586833 0.324 missense A Asp [D] 2 143 contig reference T Val [V] 2 143 exon_6 6841952 879 rs34279542 N.D. frame shift - 1 281 contig reference G Val [V] 1 281 6842030 957 rs35981875 N.D. frame shift - 1 307 contig reference G Ala [A] 1 307 6842054 981 rs3748569 0.484 missense A Arg [R] 1 315 contig reference G Gly [G] 1 315 exon_7 6842250 1053 rs3748567 0.005 missense C Arg [R] 1 339 contig reference T Cys [C] 1 339 6842273 1076 rs35151406 N.D. frame shift - 3 346 contig reference G Gly [G] 3 346 exon_8 6843002 1259 rs3762280 0.056 synonymous T Gly [G] 3 407 contig reference C Gly [G] 3 407 exon_9 6844703 1303 rs11303415 N.D. frame shift - 2 422 contig reference C Ser [S] 2 422 6844710 1310 rs60769529 N.D. frame shift - 3 424 contig reference C Pro [P] 3 424 6844722 1322 rs6668857 0.342 synonymous G Ala [A] 3 428 contig reference A Ala [A] 3 428

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Revised: May 25, 2006 1:38 PM .