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_001007267.1 minus strand NP_001007268.1 reverse NT_005403.16 reference <- currently shown NM_007366.3 minus strand NP_031392.3 reverse NT_005403.16 reference 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_005403.16 NM_001007267.1 NP_001007268.1 reverse minus strand 20, 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_24 11017493 3523 rs3828323 0.412 missense A Ser [S] 1 1106 contig reference G Gly [G] 1 1106 exon_21 11022500 3168 rs1058435 N.D. synonymous C Ala [A] 3 987 contig reference T Ala [A] 3 987 exon_20 11033518 3061 rs36040063 0.027 missense T Ser [S] 1 952 contig reference C Pro [P] 1 952 exon_12 11053276 2053 rs35537805 0.027 missense T Cys [C] 1 616 contig reference G Gly [G] 1 616 exon_9 11082591 1710 rs11883671 N.D. synonymous C Cys [C] 3 501 contig reference T Cys [C] 3 501 exon_7 11088677 1418 rs33985939 0.120 missense A His [H] 2 404 contig reference G Arg [R] 2 404 11088779 1316 rs34916310 0.025 missense A Glu [E] 2 370 contig reference C Ala [A] 2 370 exon_5 11094836 1105 rs35771982 0.406 missense G Asp [D] 1 300 contig reference C His [H] 1 300 11094860 1081 rs3749117 0.490 missense G Val [V] 1 292 contig reference A Met [M] 1 292 exon_4 11098894 1042 rs965290 0.019 missense G Val [V] 1 279 contig reference A Ile [I] 1 279 exon_3 11107995 833 rs34302652 N.D. frame shift C Pro [P] 2 209 contig reference - 2 209 11108040 788 rs34372261 N.D. frame shift C Pro [P] 2 194 contig reference - 2 194 11108047 781 rs35962365 N.D. frame shift A Met [M] 1 192 contig reference - 1 192 11108064 764 rs35676027 N.D. frame shift C Pro [P] 2 186 contig reference - 2 186 11108092 736 rs13394676 0.359 missense T Ser [S] 1 177 contig reference C Pro [P] 1 177 11108107 721 rs34276194 N.D. frame shift G Glu [E] 1 172 contig reference - 1 172 exon_2 11110771 632 rs12327936 0.024 missense A Gln [Q] 2 142 contig reference G Arg [R] 2 142 11110798 605 rs34979630 0.025 missense T Val [V] 2 133 contig reference C Ala [A] 2 133 11110821 582 rs35005192 0.032 synonymous A Pro [P] 3 125 contig reference G Pro [P] 3 125 11110935 468 rs4665143 0.500 synonymous C Ser [S] 3 87 contig reference T Ser [S] 3 87 exon_1 11128332 208 start codon 1

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Revised: May 25, 2006 1:38 PM .