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_001012279.1 minus strand NP_001012279.1 reverse NT_025741.14 reference <- currently shown NM_001012279.1 plus strand NP_001012279.1 forward NW_001838990.2 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_025741.14 NM_001012279.1 NP_001012279.1 reverse minus strand 7, 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_5 31901608 2080 rs3734448 0.499 Yes synonymous T Ala [A] 3 664 contig reference C Ala [A] 3 664 31901770 1918 rs3734449 0.014 Yes synonymous A Val [V] 3 610 contig reference G Val [V] 3 610 31901803 1885 rs3734450 0.496 Yes synonymous T Asn [N] 3 599 contig reference C Asn [N] 3 599 exon_4 31908515 1617 rs34142169 N.D. frame shift - 2 510 contig reference A Glu [E] 2 510 exon_2 31940475 1336 rs6925704 N.D. Yes synonymous T Ala [A] 3 416 contig reference C Ala [A] 3 416 exon_1 31941855 422 rs34708954 N.D. frame shift - 1 112 contig reference G Gly [G] 1 112 31941922 355 rs6569493 N.D. synonymous A Thr [T] 3 89 contig reference G Thr [T] 3 89 exon_1 31942188 89 start codon 1

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Revised: May 25, 2006 1:38 PM .