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_005693.2 plus strand NP_005684.2 forward NT_009237.17 reference <- currently shown NM_001130102.1 plus strand NP_001123574.1 forward NT_009237.17 reference View snp on GeneModel NM_001130101.1 plus strand NP_001123573.1 forward NT_009237.17 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_009237.17 NM_005693.2 NP_005684.2 forward plus strand 9, 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 46068009 36 start codon 1 exon_2 46068654 336 rs11545529 N.D. missense G Val [V] 1 39 contig reference A Ile [I] 1 39 46068694 376 rs41481445 0.095 missense T Val [V] 2 52 contig reference G Gly [G] 2 52 exon_3 46069265 518 rs2279238 0.440 synonymous T Ser [S] 3 99 contig reference C Ser [S] 3 99 46069301 554 rs34974176 0.010 synonymous C Asn [N] 3 111 contig reference T Asn [N] 3 111 46069358 611 rs34806350 0.020 synonymous C Ala [A] 3 130 contig reference G Ala [A] 3 130 exon_8 46077084 1175 rs1131379 N.D. synonymous G Val [V] 3 318 contig reference A Val [V] 3 318 exon_9 46077388 1285 rs61731956 N.D. missense A Gln [Q] 2 355 contig reference G Arg [R] 2 355 46077432 1329 rs61896016 N.D. synonymous T Leu [L] 1 370 contig reference C Leu [L] 1 370 46077452 1349 rs1050945 N.D. synonymous C Pro [P] 3 376 contig reference A Pro [P] 3 376

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Revised: May 25, 2006 1:38 PM .