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_017434.3 plus strand NP_059130.2 forward NT_010194.16 reference <- currently shown NM_175940.1 plus strand NP_787954.1 forward NT_010194.16 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_010194.16 NM_017434.3 NP_059130.2 forward plus strand 8, 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 16214722 347 start codon 1 exon_6 16218025 820 rs58074044 N.D. Yes synonymous C Ser [S] 3 158 contig reference T Ser [S] 3 158 exon_7 16218348 961 rs2258993 N.D. Yes synonymous C Phe [F] 3 205 contig reference T Phe [F] 3 205 exon_23 16233453 3231 rs16939743 0.196 missense C Thr [T] 2 962 contig reference T Ile [I] 2 962 exon_25 16234690 3422 rs16939752 0.432 missense C Arg [R] 1 1026 contig reference T Cys [C] 1 1026 exon_26 16235075 3574 rs1706804 0.497 synonymous G Thr [T] 3 1076 contig reference A Thr [T] 3 1076 exon_28 16236713 3878 rs2458236 0.499 missense T Phe [F] 1 1178 contig reference C Leu [L] 1 1178 exon_29 16238629 3993 rs2292466 N.D. missense A His [H] 2 1216 contig reference G Arg [R] 2 1216 16238684 4048 rs28393190 N.D. synonymous C Leu [L] 3 1234 contig reference G Leu [L] 3 1234

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Revised: May 25, 2006 1:38 PM .