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): 1 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_005957.3 minus strand NP_005948.3 reverse NT_021937.18 reference <- currently shown 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_021937.18 NM_005957.3 NP_005948.3 reverse minus strand 31, 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_12 6388116 2143 rs45572531 0.004 synonymous A Thr [T] 3 653 contig reference G Thr [T] 3 653 6388117 2142 rs35737219 0.032 missense T Met [M] 2 653 contig reference C Thr [T] 2 653 6388294 1965 rs2274976 0.126 missense A Gln [Q] 2 594 contig reference G Arg [R] 2 594 exon_11 6388640 1927 rs45590836 0.004 missense A Ile [I] 3 581 contig reference G Met [M] 3 581 6388686 1881 rs2274974 0.005 missense A Glu [E] 2 566 contig reference G Gly [G] 2 566 exon_10 6389778 1740 rs45449298 0.017 missense A His [H] 2 519 contig reference G Arg [R] 2 519 6389779 1739 rs45496998 0.012 missense T Cys [C] 1 519 contig reference C Arg [R] 1 519 exon_9 6391385 1660 rs35653697 0.021 synonymous A Pro [P] 3 492 contig reference G Pro [P] 3 492 exon_8 6391824 1489 rs4846051 0.164 synonymous T Phe [F] 3 435 contig reference C Phe [F] 3 435 6391841 1472 rs72552099 0.440 missense C Arg [R] 1 430 contig reference A Ser [S] 1 430 6391843 1470 rs1801131 0.543 missense C Ala [A] 2 429 contig reference A Glu [E] 2 429 6391860 1453 rs3927589 N.D. missense T Asp [D] 3 423 contig reference G Glu [E] 3 423 6391865 1448 rs45571736 0.009 missense A Arg [R] 1 422 contig reference G Gly [G] 1 422 exon_7 6392263 1240 rs2066462 0.188 synonymous T Ser [S] 3 352 contig reference C Ser [S] 3 352 exon_6 6392579 1158 rs56182143 N.D. missense A His [H] 2 325 contig reference G Arg [R] 2 325 6392608 1129 rs6664734 N.D. Yes synonymous A Val [V] 3 315 contig reference G Val [V] 3 315 6392635 1102 rs45498098 0.004 Yes synonymous T Cys [C] 3 306 contig reference C Cys [C] 3 306 6392647 1090 rs13306555 N.D. Yes synonymous T Ala [A] 3 302 contig reference C Ala [A] 3 302 exon_5 6393678 916 rs45486194 0.004 Yes synonymous T Thr [T] 3 244 contig reference C Thr [T] 3 244 6393684 910 rs45459991 0.008 Yes synonymous G Ala [A] 3 242 contig reference A Ala [A] 3 242 6393702 892 rs34279942 N.D. Yes synonymous T Phe [F] 3 236 contig reference C Phe [F] 3 236 6393710 884 rs45589033 0.004 missense A Asn [N] 1 234 contig reference G Asp [D] 1 234 6393745 849 rs1801133 0.395 missense T Val [V] 2 222 contig reference C Ala [A] 2 222 6393749 845 rs45438591 0.004 missense A Arg [R] 1 221 contig reference G Gly [G] 1 221 6393804 790 rs13306554 N.D. Yes synonymous T Pro [P] 3 202 contig reference C Pro [P] 3 202 exon_3 6398643 601 rs2066466 0.050 Yes synonymous A Thr [T] 3 139 contig reference G Thr [T] 3 139 6398660 584 rs45550133 0.004 missense T Cys [C] 1 134 contig reference C Arg [R] 1 134 6398715 529 rs2066461 0.026 Yes synonymous A Thr [T] 3 115 contig reference C Thr [T] 3 115 6398784 460 rs45546035 0.004 Yes synonymous T Asp [D] 3 92 contig reference C Asp [D] 3 92 exon_2 6400338 387 rs2066472 0.002 missense A Gln [Q] 2 68 contig reference G Arg [R] 2 68 6400424 301 rs2066470 0.163 synonymous T Pro [P] 3 39 contig reference C Pro [P] 3 39 exon_1 6400540 185 start codon 1

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Revised: May 25, 2006 1:38 PM .