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_212533.2 minus strand NP_997698.1 reverse NT_024000.16 reference <- currently shown NM_001606.4 minus strand NP_001597.2 reverse NT_024000.16 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_024000.16 NM_212533.2 NP_997698.1 reverse minus strand 20, 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_48 685965 7321 rs55971316 N.D. missense A Gln [Q] 2 2424 contig reference G Arg [R] 2 2424 exon_44 687040 6830 rs7048567 0.359 Yes synonymous C Leu [L] 3 2260 contig reference T Leu [L] 3 2260 exon_43 687353 6641 rs11555347 N.D. Yes synonymous A Val [V] 3 2197 contig reference G Val [V] 3 2197 exon_41 687725 6416 rs34125425 N.D. synonymous A Ala [A] 3 2122 contig reference G Ala [A] 3 2122 exon_37 688898 5903 rs35099111 0.039 synonymous T Val [V] 3 1951 contig reference G Val [V] 3 1951 exon_35 689362 5612 rs2271862 0.447 synonymous T His [H] 3 1854 contig reference C His [H] 3 1854 exon_25 692431 3959 rs2271864 N.D. synonymous A Thr [T] 3 1303 contig reference G Thr [T] 3 1303 exon_24 693014 3692 rs35031434 N.D. Yes synonymous A Glu [E] 3 1214 contig reference G Glu [E] 3 1214 exon_21 693775 3215 rs73564312 N.D. synonymous T Gly [G] 3 1055 contig reference C Gly [G] 3 1055 exon_17 694986 2513 rs12348881 0.203 synonymous C Ala [A] 3 821 contig reference A Ala [A] 3 821 exon_15 695501 2163 rs2090625 0.379 missense G Val [V] 1 705 contig reference T Phe [F] 1 705 exon_13 696242 1891 rs908828 N.D. missense A His [H] 2 614 contig reference C Pro [P] 2 614 exon_10 697896 1460 rs56164699 N.D. synonymous A Thr [T] 3 470 contig reference G Thr [T] 3 470 exon_9 698151 1403 rs73564322 N.D. synonymous T Asn [N] 3 451 contig reference C Asn [N] 3 451 698287 1267 rs7469920 N.D. missense C Ala [A] 2 406 contig reference T Val [V] 2 406 698365 1189 rs35422624 N.D. frame shift -/C 2 380 contig reference G Gly [G] 2 380 698444 1110 rs884750 N.D. synonymous T Leu [L] 1 354 contig reference C Leu [L] 1 354 exon_6 699836 677 rs35590326 N.D. synonymous C Ala [A] 3 209 contig reference A Ala [A] 3 209 699882 631 rs34039859 N.D. missense A His [H] 2 194 contig reference G Arg [R] 2 194 exon_1 706268 110 rs4880189 N.D. synonymous C Ala [A] 3 20 contig reference T Ala [A] 3 20 exon_1 706327 51 start codon 1

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Revised: May 25, 2006 1:38 PM .