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): 3 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_000274.1 minus strand NP_000265.1 reverse NT_035040.4 reference <- currently shown NM_000274.1 minus strand NP_000265.1 reverse NW_924884.1 Celera View snp on GeneModel NM_000274.1 minus strand NP_000265.1 reverse NW_001838010.1 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_035040.4 NM_000274.1 NP_000265.1 reverse minus strand 10, 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_10 167048 1350 rs1800456 N.D. missense C Phe [F] 3 437 contig reference G Leu [L] 3 437 167143 1255 rs11553548 N.D. missense T Ser [S] 1 406 contig reference C Pro [P] 1 406 exon_9 169962 1173 rs11461 0.485 Yes synonymous T Asn [N] 3 378 contig reference C Asn [N] 3 378 exon_4 177699 499 rs1804030 N.D. missense T Cys [C] 1 154 contig reference C Arg [R] 1 154 177728 470 rs11553553 N.D. missense G Gly [G] 2 144 contig reference A Glu [E] 2 144 exon_3 177978 323 rs11553551 N.D. missense G Arg [R] 2 95 contig reference C Pro [P] 2 95 178052 249 rs11553546 N.D. Yes synonymous G Leu [L] 3 70 contig reference A Leu [L] 3 70 exon_2 181117 191 rs11553554 N.D. missense A Asp [D] 2 51 contig reference G Gly [G] 2 51 181163 145 rs11553552 N.D. missense T Cys [C] 1 36 contig reference G Gly [G] 1 36 181210 98 rs11553549 N.D. missense A Tyr [Y] 2 20 contig reference C Ser [S] 2 20 exon_1 181268 40 start codon 1

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Revised: May 25, 2006 1:38 PM .