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): 1 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_001089.2 minus strand NP_001080.2 reverse NT_037887.4 reference <- currently shown 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_037887.4 NM_001089.2 NP_001080.2 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_31 2267925 5577 rs61747417 N.D. missense G Gly [G] 2 1622 missense T Val [V] 2 1622 contig reference A Glu [E] 2 1622 exon_28 2271097 5002 rs34902969 N.D. frame shift G Thr [T] 3 1430 contig reference -/C Thr [T] 3 1430 exon_27 2271431 4828 rs149532 0.219 Yes synonymous T Ser [S] 3 1372 contig reference C Ser [S] 3 1372 exon_25 2274359 4496 rs35089233 0.029 missense G Gly [G] 1 1262 contig reference A Ser [S] 1 1262 exon_22 2276722 3964 rs11539320 N.D. synonymous T Leu [L] 3 1084 contig reference G Leu [L] 3 1084 2276741 3945 rs11539319 N.D. missense A His [H] 2 1078 contig reference C Pro [P] 2 1078 2276808 3878 rs34671771 0.026 missense A Ile [I] 1 1056 contig reference G Val [V] 1 1056 2276862 3824 rs34994813 0.027 missense A Ile [I] 1 1038 contig reference G Val [V] 1 1038 exon_20 2279621 3227 rs13332760 N.D. missense T Phe [F] 1 839 contig reference G Val [V] 1 839 exon_18 2285666 3052 rs45620539 0.043 synonymous T His [H] 3 780 contig reference C His [H] 3 780 2285673 3045 rs34912779 0.027 missense G Arg [R] 2 778 contig reference A His [H] 2 778 2285710 3008 rs45592239 0.022 missense T Ser [S] 1 766 contig reference C Pro [P] 1 766 exon_15 2288529 2467 rs323043 0.163 Yes synonymous G Pro [P] 3 585 contig reference C Pro [P] 3 585 exon_10 2307337 1771 rs13332514 0.136 synonymous T Phe [F] 3 353 contig reference C Phe [F] 3 353 2307367 1741 rs34096526 0.027 synonymous T Pro [P] 3 343 contig reference C Pro [P] 3 343 exon_9 2307686 1666 rs35161127 0.026 synonymous T Ile [I] 3 318 contig reference C Ile [I] 3 318 exon_8 2309619 1549 rs45468595 0.021 synonymous T Ala [A] 3 279 contig reference C Ala [A] 3 279 2309775 1393 rs45480502 0.042 synonymous T Ala [A] 3 227 contig reference C Ala [A] 3 227 exon_7 2313688 1162 rs74002800 N.D. synonymous A Val [V] 3 150 contig reference G Val [V] 3 150 exon_6 2314435 1130 rs45447801 0.022 missense C His [H] 1 140 contig reference A Asn [N] 1 140 exon_1 2316468 713 start codon 1

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Revised: May 25, 2006 1:38 PM .