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_019075.2 plus strand NP_061948.1 forward NT_005120.15 reference <- currently shown NM_019075.2 plus strand NP_061948.1 forward NW_921618.1 Celera View snp on GeneModel NM_019075.2 plus strand NP_061948.1 forward NW_001838868.1 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_005120.15 NM_019075.2 NP_061948.1 forward plus strand 34, 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 477923 47 start codon 1 exon_1 477979 103 rs45544935 0.014 synonymous T Thr [T] 3 19 contig reference C Thr [T] 3 19 478048 172 rs11683356 0.010 synonymous A Gln [Q] 3 42 contig reference G Gln [Q] 3 42 478099 223 rs56935833 N.D. missense A Ile [I] 3 59 contig reference G Met [M] 3 59 478179 303 rs28969679 N.D. missense T Leu [L] 2 86 contig reference A Gln [Q] 2 86 478197 321 rs28969680 0.014 missense A Asp [D] 2 92 contig reference T Val [V] 2 92 478205 329 rs28969681 N.D. missense G Asp [D] 1 95 contig reference C His [H] 1 95 478225 349 rs45497797 0.014 synonymous A Gln [Q] 3 101 contig reference G Gln [Q] 3 101 478227 351 rs45538634 0.014 missense T Val [V] 2 102 contig reference C Ala [A] 2 102 478230 354 rs45473304 0.014 missense G Arg [R] 2 103 contig reference A Gln [Q] 2 103 478235 359 rs45484192 0.014 missense T Leu [L] 1 105 contig reference A Ile [I] 1 105 478237 361 rs45580232 0.014 missense G Met [M] 3 105 contig reference A Ile [I] 3 105 478249 373 rs45618733 0.014 missense T Phe [F] 3 109 contig reference A Leu [L] 3 109 478250 374 rs28969682 0.014 missense C Leu [L] 1 110 contig reference A Met [M] 1 110 478263 387 rs28969683 N.D. missense A Asn [N] 2 114 contig reference G Ser [S] 2 114 478271 395 rs45507501 0.014 missense T Phe [F] 1 117 contig reference C Leu [L] 1 117 478274 398 rs45458396 0.014 missense A Asn [N] 1 118 contig reference G Asp [D] 1 118 478337 461 rs10187694 0.010 missense A Lys [K] 1 139 contig reference G Glu [E] 1 139 478396 520 rs28969684 N.D. synonymous C Ala [A] 3 158 contig reference T Ala [A] 3 158 478519 643 rs45523834 0.014 synonymous C Asp [D] 3 199 contig reference T Asp [D] 3 199 478527 651 rs58704432 N.D. missense T Ile [I] 2 202 contig reference C Thr [T] 2 202 478606 730 rs45522639 0.014 synonymous G Leu [L] 3 228 contig reference A Leu [L] 3 228 478615 739 rs17854828 0.211 synonymous T Ala [A] 3 231 contig reference C Ala [A] 3 231 478635 759 rs45563247 0.014 missense T Leu [L] 2 238 contig reference C Pro [P] 2 238 478652 776 rs28969685 0.028 missense A Ile [I] 1 244 contig reference C Leu [L] 1 244 478660 784 rs1042603 N.D. synonymous C Ser [S] 3 246 contig reference T Ser [S] 3 246 478686 810 rs45574333 0.014 missense T Met [M] 2 255 contig reference C Thr [T] 2 255 exon_2 608534 1002 rs17851756 N.D. missense C Thr [T] 2 319 contig reference T Ile [I] 2 319 exon_4 609626 1128 rs34946978 0.011 missense T Leu [L] 2 361 contig reference C Pro [P] 2 361 609634 1136 rs55750087 N.D. missense G Gly [G] 1 364 contig reference C Arg [R] 1 364 609766 1268 rs36076514 0.010 missense T Leu [L] 1 408 contig reference G Val [V] 1 408 609814 1316 rs11682453 N.D. Yes synonymous T Leu [L] 1 424 contig reference C Leu [L] 1 424 exon_5 613785 1465 rs28900406 0.031 synonymous T Pro [P] 3 473 contig reference C Pro [P] 3 473 613813 1493 rs34993780 0.027 missense G Asp [D] 1 483 contig reference T Tyr [Y] 1 483 613888 1568 rs1042709 N.D. missense C Pro [P] 1 508 contig reference G Ala [A] 1 508

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Revised: May 25, 2006 1:38 PM .