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): 4 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_002819.3 plus strand NP_002810.1 forward NT_011255.14 reference <- currently shown NM_031990.2 plus strand NP_114367.1 forward NT_011255.14 reference View snp on GeneModel NM_031991.2 plus strand NP_114368.1 forward NT_011255.14 reference View snp on GeneModel NM_175847.1 plus strand NP_787041.1 forward NT_011255.14 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_011255.14 NM_002819.3 NP_002810.1 forward plus strand 19, 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 737498 88 start codon 1 exon_2 739416 99 rs3208549 N.D. synonymous C Ile [I] 3 4 contig reference T Ile [I] 3 4 exon_4 744079 246 rs351981 0.184 synonymous C Ser [S] 3 53 contig reference T Ser [S] 3 53 744110 277 rs11549885 N.D. missense T Trp [W] 1 64 contig reference C Arg [R] 1 64 exon_5 744327 411 rs10420953 0.097 synonymous T Asn [N] 3 108 contig reference C Asn [N] 3 108 744350 434 rs11549886 N.D. missense T Leu [L] 2 116 contig reference C Ser [S] 2 116 744396 480 rs3180287 0.124 synonymous T Ser [S] 3 131 contig reference C Ser [S] 3 131 744406 490 rs34102730 N.D. frame shift G Glu [E] 1 135 contig reference - 1 135 exon_6 744612 603 rs4986235 0.062 synonymous T Asp [D] 3 172 contig reference C Asp [D] 3 172 744642 633 rs3170451 0.225 synonymous T Pro [P] 3 182 contig reference C Pro [P] 3 182 exon_7 744921 786 rs12151090 N.D. synonymous T Ser [S] 3 233 contig reference C Ser [S] 3 233 exon_8 745112 904 rs13560 N.D. missense T Cys [C] 1 273 contig reference C Arg [R] 1 273 exon_10 746451 1101 rs11549887 N.D. synonymous T Ala [A] 3 338 contig reference C Ala [A] 3 338 746469 1119 rs11549881 N.D. synonymous A Ala [A] 3 344 contig reference G Ala [A] 3 344 exon_13 748586 1374 rs13169 N.D. Yes synonymous G Pro [P] 3 429 contig reference C Pro [P] 3 429 748631 1419 rs1058275 N.D. Yes synonymous T Arg [R] 3 444 contig reference C Arg [R] 3 444 748679 1467 rs7259366 N.D. Yes synonymous T Pro [P] 3 460 contig reference C Pro [P] 3 460 748742 1530 rs1135908 N.D. Yes synonymous T Thr [T] 3 481 contig reference G Thr [T] 3 481 exon_14 750573 1581 rs11549883 0.054 Yes synonymous A Val [V] 3 498 contig reference C Val [V] 3 498 exon_15 750703 1638 rs11549888 N.D. Yes synonymous T Arg [R] 3 517 contig reference C Arg [R] 3 517

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Revised: May 25, 2006 1:38 PM .