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_005542.3 plus strand NP_005533.2 forward NT_034885.3 reference <- currently shown NM_005542.3 plus strand NP_005533.2 forward NW_923796.1 Celera View snp on GeneModel NM_005542.3 minus strand NP_005533.2 reverse NW_001839099.2 HuRef View snp on GeneModel NM_005542.3 plus strand NP_005533.2 forward NT_079596.2 CRA_TCAGchr7v2 View snp on GeneModel NM_198336.1 plus strand NP_938150.1 forward NT_034885.3 reference View snp on GeneModel NM_198336.1 plus strand NP_938150.1 forward NW_923796.1 Celera View snp on GeneModel NM_198336.1 minus strand NP_938150.1 reverse NW_001839099.2 HuRef View snp on GeneModel NM_198336.1 plus strand NP_938150.1 forward NT_079596.2 CRA_TCAGchr7v2 View snp on GeneModel NM_198337.1 plus strand NP_938151.1 forward NT_034885.3 reference View snp on GeneModel NM_198337.1 plus strand NP_938151.1 forward NW_923796.1 Celera View snp on GeneModel NM_198337.1 minus strand NP_938151.1 reverse NW_001839099.2 HuRef View snp on GeneModel NM_198337.1 plus strand NP_938151.1 forward NT_079596.2 CRA_TCAGchr7v2 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_034885.3 NM_005542.3 NP_005533.2 forward plus strand 6, 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 719362 155 start codon 1 exon_2 719387 180 rs11544449 N.D. nonsense A [Ter[*]] 2 9 contig reference G Trp [W] 2 9 719440 233 rs1129825 N.D. missense A Thr [T] 1 27 contig reference G Ala [A] 1 27 719656 449 rs1129826 N.D. missense A Thr [T] 1 99 contig reference G Ala [A] 1 99 exon_3 722738 663 rs1129827 N.D. missense G Gly [G] 2 170 contig reference T Val [V] 2 170 722744 669 rs1129828 N.D. missense G Gly [G] 2 172 contig reference T Val [V] 2 172 exon_5 723831 865 rs1129830 N.D. synonymous G Thr [T] 3 237 contig reference A Thr [T] 3 237

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Revised: May 25, 2006 1:38 PM .