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): 2 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_027375.2 plus strand NP_081651.2 forward NW_001030414.1 Celera <- currently shown NM_027375.2 plus strand NP_081651.2 forward NT_039500.7 C57BL/6J 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 Celera NW_001030414.1 NM_027375.2 NP_081651.2 forward plus strand 15, 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 45515 41 start codon 1 exon_6 59666 rs49427219 N.D. missense C Asn [N] 3 225 contig reference G Lys [K] 3 225 59845 rs49323622 N.D. missense G Ser [S] 2 285 contig reference A Asn [N] 2 285 59918 rs45793647 N.D. synonymous A Gln [Q] 3 309 contig reference G Gln [Q] 3 309 60311 rs50834296 N.D. missense G Met [M] 3 440 contig reference A Ile [I] 3 440 60970 rs49441966 N.D. missense A Asn [N] 2 660 contig reference G Ser [S] 2 660 61311 rs46207595 N.D. missense C Leu [L] 1 774 contig reference A Ile [I] 1 774 61432 rs51876126 N.D. missense T Val [V] 2 814 contig reference C Ala [A] 2 814 61596 rs51882371 N.D. missense A Ile [I] 1 869 contig reference C Leu [L] 1 869 61625 rs46212665 N.D. missense C His [H] 3 878 contig reference G Gln [Q] 3 878 exon_14 76065 rs47231762 N.D. synonymous C Tyr [Y] 3 1206 contig reference T Tyr [Y] 3 1206 exon_17 78792 rs52058178 N.D. synonymous A Lys [K] 3 1324 contig reference G Lys [K] 3 1324 exon_19 82748 rs50530827 N.D. missense A His [H] 2 1432 contig reference G Arg [R] 2 1432 exon_20 84979 rs51315941 N.D. missense C Thr [T] 2 1533 contig reference G Ser [S] 2 1533 84986 rs50530124 N.D. synonymous C Pro [P] 3 1535 contig reference T Pro [P] 3 1535 exon_21 86196 rs46779942 N.D. missense G Ala [A] 1 1545 contig reference A Thr [T] 1 1545

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Revised: May 25, 2006 1:38 PM .