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): 12 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_022105.3 minus strand NP_071388.2 reverse NT_011333.5 reference <- currently shown NM_022105.3 minus strand NP_071388.2 reverse NW_927339.1 Celera View snp on GeneModel NM_022105.3 minus strand NP_071388.2 reverse NW_001838671.1 HuRef View snp on GeneModel NM_033081.1 minus strand NP_149072.1 reverse NT_011333.5 reference View snp on GeneModel NM_033081.1 minus strand NP_149072.1 reverse NW_927339.1 Celera View snp on GeneModel NM_033081.1 minus strand NP_149072.1 reverse NW_001838671.1 HuRef View snp on GeneModel NM_080796.2 minus strand NP_542986.1 reverse NT_011333.5 reference View snp on GeneModel NM_080796.2 minus strand NP_542986.1 reverse NW_927339.1 Celera View snp on GeneModel NM_080796.2 minus strand NP_542986.1 reverse NW_001838671.1 HuRef View snp on GeneModel NM_080797.2 minus strand NP_542987.2 reverse NT_011333.5 reference View snp on GeneModel NM_080797.2 minus strand NP_542987.2 reverse NW_927339.1 Celera View snp on GeneModel NM_080797.2 minus strand NP_542987.2 reverse NW_001838671.1 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_011333.5 NM_022105.3 NP_071388.2 reverse minus strand 13, 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_5 275232 1598 rs34820000 N.D. synonymous A Ala [A] 3 424 contig reference G Ala [A] 3 424 exon_4 277940 1229 rs6010785 N.D. Yes synonymous A Glu [E] 3 301 contig reference G Glu [E] 3 301 exon_3 278769 1153 rs6090160 N.D. Yes missense T Leu [L] 2 276 contig reference C Pro [P] 2 276 278795 1127 rs34047884 N.D. Yes synonymous T Asn [N] 3 267 contig reference C Asn [N] 3 267 278870 1052 rs34097003 N.D. synonymous A Ala [A] 3 242 contig reference G Ala [A] 3 242 279188 734 rs36034272 N.D. synonymous G Pro [P] 3 136 contig reference A Pro [P] 3 136 279364 558 rs35714670 N.D. synonymous T Leu [L] 1 78 contig reference C Leu [L] 1 78 279465 457 rs35560628 N.D. frame shift A Glu [E] 2 44 contig reference - 2 44 279494 428 rs11907248 0.126 synonymous T Ile [I] 3 34 contig reference C Ile [I] 3 34 279523 399 rs35954422 N.D. frame shift A Lys [K] 1 25 contig reference - 1 25 279558 364 rs6090161 N.D. missense T Leu [L] 2 13 contig reference C Pro [P] 2 13 279567 355 rs34323795 N.D. frame shift A Glu [E] 2 10 contig reference - 2 10 279590 332 rs59453100 N.D. synonymous T Asp [D] 3 2 contig reference C Asp [D] 3 2 exon_1 279595 327 start codon 1

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Revised: May 25, 2006 1:38 PM .