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_153839.5 plus strand NP_722581.4 forward NT_007592.14 reference <- currently shown NM_153839.5 plus strand NP_722581.4 forward NW_923073.1 Celera View snp on GeneModel NM_153839.5 minus strand NP_722581.4 reverse NW_001838981.2 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_007592.14 NM_153839.5 NP_722581.4 forward plus strand 9, 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 38499387 277 start codon 1 exon_3 38499440 330 rs9885637 N.D. synonymous G Ser [S] 3 18 contig reference C Ser [S] 3 18 exon_5 38504979 421 rs13212023 0.139 missense C Pro [P] 1 49 contig reference T Ser [S] 1 49 38505073 515 rs6907125 0.489 missense G Arg [R] 2 80 contig reference A Gln [Q] 2 80 exon_7 38507453 999 rs8180544 0.490 synonymous G Ser [S] 3 241 contig reference T Ser [S] 3 241 38507496 1042 rs17541107 0.500 missense A Met [M] 1 256 contig reference T Leu [L] 1 256 38507804 1350 rs10807371 0.484 synonymous T Ser [S] 3 358 contig reference C Ser [S] 3 358 38507805 1351 rs10807372 0.488 missense G Glu [E] 1 359 contig reference A Lys [K] 1 359 38507925 1471 rs9381594 0.489 missense G Val [V] 1 399 contig reference A Ile [I] 1 399 exon_8 38512973 2154 rs9296573 0.495 synonymous T Leu [L] 3 626 contig reference A Leu [L] 3 626

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Revised: May 25, 2006 1:38 PM .