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): 4 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_000553.4 plus strand NP_000544.2 forward NT_007995.14 reference <- currently shown NM_000553.3 plus strand NP_000544.2 forward NT_007995.14 reference View snp on GeneModel NM_000553.3 plus strand NP_000544.2 forward NW_923907.1 Celera View snp on GeneModel NM_000553.3 minus strand NP_000544.2 reverse NW_001839128.2 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_007995.14 NM_000553.4 NP_000544.2 forward plus strand 44, 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 1236738 789 start codon 1 exon_2 1236779 830 rs3087420 0.005 synonymous G Lys [K] 3 14 contig reference A Lys [K] 3 14 1236832 883 rs34477820 0.027 missense G Arg [R] 2 32 contig reference A Lys [K] 2 32 exon_3 1237453 895 rs34084741 0.026 missense A Gln [Q] 2 36 contig reference G Arg [R] 2 36 1237469 911 rs11309545 N.D. frame shift -/A 3 41 contig reference A Glu [E] 3 41 exon_4 1242709 1128 rs2230009 0.151 missense A Ile [I] 1 114 contig reference G Val [V] 1 114 exon_5 1243255 1194 rs17847582 N.D. missense A Thr [T] 1 136 contig reference G Ala [A] 1 136 1243295 1234 rs61761625 N.D. missense A His [H] 2 149 contig reference G Arg [R] 2 149 exon_6 1245331 1301 rs1800389 0.427 Yes synonymous T Cys [C] 3 171 contig reference C Cys [C] 3 171 exon_7 1246567 1462 rs62506077 N.D. missense A Gln [Q] 2 225 contig reference G Arg [R] 2 225 exon_9 1259287 1758 rs1800390 N.D. missense G Ala [A] 1 324 contig reference A Thr [T] 1 324 1259303 1774 rs4987237 N.D. missense G Arg [R] 2 329 contig reference A Gln [Q] 2 329 1259344 1815 rs11574222 0.003 missense A Lys [K] 1 343 contig reference G Glu [E] 1 343 1259422 1893 rs17847577 N.D. nonsense T xxx [X] 1 369 contig reference C Arg [R] 1 369 1259466 1937 rs4987238 0.005 missense T Phe [F] 3 383 contig reference G Leu [L] 3 383 1259472 1943 rs2230010 0.174 synonymous A Glu [E] 3 385 contig reference G Glu [E] 3 385 1259478 1949 rs1800391 0.061 missense A Ile [I] 3 387 contig reference G Met [M] 3 387 exon_13 1267201 2386 rs11574240 0.003 missense G Ser [S] 2 533 contig reference A Asn [N] 2 533 exon_15 1269128 2513 rs13438802 0.014 synonymous C Tyr [Y] 3 575 contig reference T Tyr [Y] 3 575 1269191 2576 rs13438803 N.D. synonymous C Ser [S] 3 596 contig reference T Ser [S] 3 596 exon_16 1270125 2623 rs11574250 0.004 missense G Cys [C] 2 612 contig reference C Ser [S] 2 612 exon_17 1275112 2741 rs11574263 0.007 synonymous T Gly [G] 3 651 contig reference C Gly [G] 3 651 exon_19 1289939 2911 rs11574289 0.002 missense T Phe [F] 2 708 contig reference C Ser [S] 2 708 1289947 2919 rs34560788 0.020 missense T Trp [W] 1 711 contig reference C Arg [R] 1 711 1290057 3029 rs2230011 0.262 synonymous G Leu [L] 3 747 contig reference T Leu [L] 3 747 exon_20 1294712 3130 rs17847568 N.D. missense T Ile [I] 2 781 contig reference C Thr [T] 2 781 1294731 3149 rs1800392 0.499 synonymous T Leu [L] 3 787 contig reference G Leu [L] 3 787 exon_21 1298544 3248 rs1800393 N.D. synonymous G Ala [A] 3 820 contig reference T Ala [A] 3 820 1298584 3288 rs3087425 0.456 missense T Cys [C] 1 834 contig reference C Arg [R] 1 834 1298655 3359 rs3087432 0.017 synonymous C Arg [R] 3 857 contig reference T Arg [R] 3 857 exon_23 1303200 3523 rs11574323 0.003 missense G Ser [S] 2 912 contig reference T Ile [I] 2 912 exon_26 1320041 3997 rs61761622 N.D. missense T Phe [F] 2 1070 contig reference G Cys [C] 2 1070 1320043 3999 rs61761623 N.D. missense T Ser [S] 1 1071 contig reference C Pro [P] 1 1071 1320054 4010 rs1801195 0.500 missense T Phe [F] 3 1074 contig reference G Leu [L] 3 1074 exon_27 1320918 4024 rs3087414 0.023 missense T Leu [L] 2 1079 contig reference C Ser [S] 2 1079 1320919 4025 rs11574345 0.010 synonymous A Ser [S] 3 1079 contig reference G Ser [S] 3 1079 exon_29 1325356 4185 rs11574358 0.007 missense G Ala [A] 1 1133 contig reference T Ser [S] 1 1133 exon_31 1328646 4376 rs61761624 N.D. synonymous G Glu [E] 3 1196 contig reference A Glu [E] 3 1196 1328723 4453 rs17847574 N.D. missense G Cys [C] 2 1222 contig reference T Phe [F] 2 1222 exon_34 1345344 4803 rs11574395 0.012 missense A Ile [I] 1 1339 contig reference G Val [V] 1 1339 1345412 4871 rs1801196 0.381 synonymous T Ser [S] 3 1361 contig reference C Ser [S] 3 1361 1345428 4887 rs1346044 0.278 missense C Arg [R] 1 1367 contig reference T Cys [C] 1 1367 1345519 4978 rs71706606 N.D. frame shift (15bp) 2 1397 frame shift (20bp) 2 1397 frame shift (LARGEDELETION)/- 2 1397 exon_35 1351309 5004 rs11574410 0.003 nonsense T xxx [X] 1 1406 contig reference C Arg [R] 1 1406 1351373 5068 rs61751045 N.D. missense C Thr [T] 2 1427 contig reference G Arg [R] 2 1427

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Revised: May 25, 2006 1:38 PM .