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_019024.1 minus strand NP_061897.1 reverse NT_022184.14 reference <- currently shown NM_019024.1 minus strand NP_061897.1 reverse NW_927719.1 Celera View snp on GeneModel NM_019024.1 minus strand NP_061897.1 reverse NW_001838769.1 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_022184.14 NM_019024.1 NP_061897.1 reverse minus strand 10, 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_36 16024737 6141 rs11550743 N.D. synonymous C Pro [P] 3 2015 contig reference T Pro [P] 3 2015 exon_31 16046661 5103 rs1007823 0.399 synonymous C Val [V] 3 1669 synonymous G Val [V] 3 1669 synonymous T Val [V] 3 1669 contig reference A Val [V] 3 1669 16046667 5097 rs17497654 0.367 synonymous A Gln [Q] 3 1667 contig reference G Gln [Q] 3 1667 exon_30 16048812 4897 rs2302657 N.D. missense C Pro [P] 1 1601 contig reference T Ser [S] 1 1601 exon_29 16050268 4731 rs35377870 N.D. frame shift T Thr [T] 3 1545 contig reference - 3 1545 exon_27 16056983 4314 rs17020125 0.428 synonymous T Ser [S] 3 1406 contig reference C Ser [S] 3 1406 exon_17 16096644 2535 rs10202107 0.028 synonymous G Gln [Q] 3 813 contig reference A Gln [Q] 3 813 exon_15 16100435 2277 rs11686721 0.022 synonymous G Gly [G] 3 727 contig reference T Gly [G] 3 727 exon_3 16122273 357 rs6758981 N.D. synonymous G Thr [T] 3 87 contig reference A Thr [T] 3 87 16122276 354 rs6743906 0.140 synonymous T Phe [F] 3 86 contig reference C Phe [F] 3 86 exon_1 16126490 97 start codon 1

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Revised: May 25, 2006 1:38 PM .