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_002081.2 plus strand NP_002072.2 forward NT_005416.12 reference <- currently shown NM_002081.2 plus strand NP_002072.2 forward NW_001838873.1 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_005416.12 NM_002081.2 NP_002072.2 forward plus strand 190, all 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 5' near gene 547725 rs4344933 0.380 5' near gene A/G 547830 rs10182511 N.D. 5' near gene G/T 548135 rs6716265 0.496 5' near gene C/T 548384 rs9973786 N.D. 5' near gene A/G 549032 rs62187173 N.D. 5' near gene C/T 549616 rs3828333 N.D. 5' near gene A/G exon_1 549940 222 start codon 1 intron_1 550131 rs2352823 N.D. intron C/T 550318 rs13026814 N.D. intron A/C 550328 rs13026820 N.D. intron A/C 550553 rs60819115 N.D. intron C/T 551224 rs12467792 N.D. intron A/G 551328 rs35515676 N.D. intron -/T 552264 rs4553824 N.D. intron C/T 552354 rs4311058 N.D. intron A/G 553103 rs60805200 N.D. intron C/T 553213 rs58192469 N.D. intron A/C 553263 rs10184291 N.D. intron A/G 553514 rs61056707 N.D. intron A/G 553695 rs56192488 N.D. intron G/T 553748 rs4558582 N.D. intron C/T 553910 rs7570292 N.D. intron A/G 555271 rs61323318 N.D. intron A/G 555412 rs34962319 N.D. intron -/G 555754 rs34868838 N.D. intron -/C 555959 rs35333679 N.D. intron -/G 556043 rs10194112 N.D. intron A/G 556099 rs59746067 N.D. intron C/T 556152 rs10211061 N.D. intron C/T 556194 rs10211085 N.D. intron C/T 556253 rs6718152 N.D. intron A/C 556345 rs6718278 N.D. intron C/T 556480 rs6706807 N.D. intron A/G 556687 rs7577243 0.493 intron A/G 556925 rs7572255 N.D. intron C/T 556939 rs7577592 N.D. intron A/G 556948 rs7572266 N.D. intron C/T 556950 rs7580870 N.D. intron C/T 557224 rs6722129 N.D. intron C/G 557314 rs36106834 N.D. intron -/T 557556 rs34880100 N.D. intron -/C 557885 rs7575970 N.D. intron C/T 558051 rs34771298 N.D. intron -/C 558150 rs10167614 N.D. intron A/G 558237 rs10933602 N.D. intron A/G 558338 rs10933603 0.488 intron C/T 558571 rs10933604 0.488 intron A/G 558614 rs11676749 N.D. intron C/T 558682 rs28513094 N.D. intron C/G 559131 rs7569539 N.D. intron A/G 559917 rs11674983 N.D. intron C/T 560073 rs60270798 N.D. intron C/T 560080 rs4676438 N.D. intron C/G 560173 rs58375515 N.D. intron C/G 560188 rs11685653 N.D. intron G/T 560218 rs13419708 N.D. intron C/G 560219 rs13409716 N.D. intron A/G 560285 rs11692341 N.D. intron A/G 560324 rs62187174 N.D. intron A/G 560391 rs13424854 0.290 intron A/G 560427 rs7589322 0.408 intron A/G 560493 rs35667044 N.D. intron C/G 560866 rs7576734 N.D. intron A/G 560922 rs34923214 N.D. intron -/G 560934 rs10207602 N.D. intron C/T 560956 rs7576849 0.042 intron A/G 561009 rs55928262 N.D. intron C/T 561014 rs11902723 0.391 intron A/G 561255 rs34880236 N.D. intron -/C 561376 rs35140969 N.D. intron A/G 561476 rs11687369 N.D. intron A/G 561483 rs11691816 N.D. intron C/T 561552 rs62187175 N.D. intron A/G 561640 rs55963077 N.D. intron G/T 561943 rs13034612 N.D. intron G/T 562049 rs34174647 N.D. intron A/G 562084 rs35066644 N.D. intron C/G 562233 rs35638217 N.D. intron C/T 562286 rs35513738 N.D. intron -/G 562459 rs12990815 N.D. intron C/T 562473 rs13034395 N.D. intron A/C 562641 rs60196431 N.D. intron -/AGGTCG 562763 rs7599776 N.D. intron A/G 562765 rs11693618 N.D. intron C/T 562771 rs4676357 N.D. intron A/C 562814 rs7594508 N.D. intron C/T 562876 rs6734609 N.D. intron A/G 563004 rs60345704 N.D. intron A/G 563150 rs35479259 N.D. intron C/T 563334 rs11376903 N.D. intron -/C 563404 rs58727534 N.D. intron C/T 563418 rs34548888 N.D. intron A/G 563461 rs4676356 N.D. intron G/T 563585 rs2844 0.500 intron A/T 563765 rs1133953 N.D. intron A/G 563769 rs1133952 N.D. intron A/G 563823 rs13421123 N.D. intron A/G 564257 rs56781214 N.D. intron A/G 564410 rs60050368 N.D. intron C/T 564606 rs3828334 0.451 intron A/G 564631 rs3749127 0.051 intron C/G 565120 rs3828336 0.325 intron A/G 565431 rs34412658 N.D. intron C/T 565629 rs1320130 0.467 intron C/G 566584 rs28638300 N.D. intron G/T 566629 rs13431676 N.D. intron A/G 566681 rs35392247 N.D. intron A/G 567095 rs4268920 N.D. intron C/T 567172 rs4423588 N.D. intron A/G 567643 rs56137336 N.D. intron C/T 567786 rs55927876 N.D. intron C/T 567885 rs13010969 N.D. intron C/T 568291 rs35406163 N.D. intron C/G 568366 rs11892190 N.D. intron A/G 568526 rs12997581 N.D. intron A/G 569679 rs35867125 N.D. intron -/C 569957 rs12695019 N.D. intron A/G 570107 rs2292832 0.492 intron C/T 570239 rs3830535 N.D. intron -/GCGCCGAGG 570360 rs11693260 N.D. intron C/G 571369 rs10933605 N.D. intron A/G 571444 rs11680522 N.D. intron G/T 571516 rs62187176 N.D. intron A/C 571573 rs11680576 0.407 intron C/T 571700 rs11695091 N.D. intron C/G 571747 rs11680677 N.D. intron C/T 571930 rs13430967 N.D. intron -/C/G 571935 rs13390118 N.D. intron C/G 572617 rs34177490 N.D. intron -/G 572642 rs12469469 N.D. intron C/T 572754 rs2352827 N.D. intron C/T exon_2 573104 441 rs11558615 N.D. nonsense T [Ter[*]] 1 74 contig reference G Glu [E] 1 74 573180 517 rs6717362 N.D. missense C Thr [T] 2 99 contig reference T Met [M] 2 99 intron_2 573249 rs34180864 N.D. intron C/T 573461 rs2352828 N.D. intron C/G 573861 rs6757710 N.D. intron A/G 574130 rs34028191 N.D. intron -/G 574182 rs6437344 N.D. intron C/T 574520 rs11894682 N.D. intron G/T 575081 rs35165417 N.D. intron -/G 575275 rs35328490 N.D. intron A/G 576091 rs60221599 N.D. intron A/G 576170 rs35971355 N.D. intron A/G exon_3 576277 612 rs34976040 N.D. missense A Arg [R] 1 131 contig reference G Gly [G] 1 131 576345 680 rs1042829 N.D. synonymous T Arg [R] 3 153 contig reference C Arg [R] 3 153 576487 822 rs35343906 N.D. frame shift - 1 201 contig reference C Pro [P] 1 201 intron_3 577313 rs6748792 N.D. intron A/G intron_4 577549 rs10191531 N.D. intron C/T 577618 rs881029 0.287 intron A/G 577809 rs6752273 N.D. intron A/G 578040 rs3792219 0.019 intron A/G 578108 rs57964958 N.D. intron A/G 578230 rs3838590 N.D. intron -/C 578561 rs12695020 0.499 intron A/G 578569 rs12695021 N.D. intron C/T 578580 rs62187178 N.D. intron C/T 578599 rs3830536 N.D. intron -/ACGCGCGCACACAGGCGTTGACACGCACACGCAGGCGTCA intron_5 578817 rs41266965 N.D. intron C/T 578841 rs13001121 N.D. intron C/T exon_6 578915 1274 rs34755742 N.D. frame shift - 3 351 contig reference G Gln [Q] 3 351 578921 1280 rs2229458 0.492 synonymous T Pro [P] 3 353 contig reference C Pro [P] 3 353 exon_7 579103 1361 rs2228327 0.395 synonymous T Ser [S] 3 380 contig reference C Ser [S] 3 380 intron_7 579362 rs10188712 N.D. intron A/G exon_8 579518 1514 rs2228329 N.D. synonymous T Asp [D] 3 431 contig reference C Asp [D] 3 431 intron_8 579674 rs3177014 N.D. intron C/T 579843 rs2271772 0.154 intron C/T 580004 rs10700206 N.D. intron -/G/GTG/T 580005 rs57954246 N.D. intron -/TGG 580058 rs6760745 N.D. intron A/G exon_9 580083 1670 rs1126920 0.153 synonymous T Asp [D] 3 483 contig reference C Asp [D] 3 483 580089 1676 rs2228330 0.189 synonymous T Gly [G] 3 485 contig reference C Gly [G] 3 485 580132 1719 rs2228331 0.477 missense G Gly [G] 1 500 contig reference A Ser [S] 1 500 580212 1799 rs1042841 0.382 synonymous G Gly [G] 3 526 contig reference A Gly [G] 3 526 580468 2055 rs11892254 N.D. 3' UTR C/T 580477 2064 rs62187180 N.D. 3' UTR A/G 580791 2378 rs35036547 N.D. 3' UTR A/G 580846 2433 rs3792218 0.005 3' UTR C/T 580984 2571 rs36203920 N.D. 3' UTR A/G 580985 2572 rs3792217 0.173 3' UTR C/T 581134 2721 rs13013933 0.061 3' UTR A/G 581182 2769 rs3792216 0.129 3' UTR C/T 581223 2810 rs9678753 N.D. 3' UTR A/T 581253 2840 rs3792215 0.466 3' UTR C/T 581305 2892 rs3792214 0.498 3' UTR C/G 581329 2916 rs35984995 N.D. 3' UTR C/T 581457 3044 rs3792213 0.153 3' UTR C/G 581569 3156 rs3792212 N.D. 3' UTR A/G 581951 3538 rs34539825 N.D. 3' UTR C/G 581974 3561 rs3749126 0.016 3' UTR A/T 582044 3631 rs3088386 N.D. 3' UTR C/T 582045 3632 rs1042823 0.061 3' UTR C/T

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Revised: May 25, 2006 1:38 PM .