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): 1 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_005502.2 minus strand NP_005493.2 reverse NT_008470.18 reference <- currently shown 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_008470.18 NM_005502.2 NP_005493.2 reverse minus strand 54, 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_50 14867858 7042 rs34879708 0.025 missense A Glu [E] 3 2243 contig reference C Asp [D] 3 2243 exon_49 14869024 6816 rs2853577 N.D. missense C Pro [P] 2 2168 contig reference T Leu [L] 2 2168 14869077 6763 rs61741359 N.D. synonymous C Pro [P] 3 2150 synonymous T Pro [P] 3 2150 contig reference G Pro [P] 3 2150 exon_46 14871427 6496 rs9282537 0.166 Yes synonymous T Gly [G] 3 2061 contig reference C Gly [G] 3 2061 exon_45 14871972 6322 rs73517882 N.D. synonymous A Gly [G] 3 2003 contig reference G Gly [G] 3 2003 exon_44 14874414 6234 rs2853581 N.D. missense G Arg [R] 2 1974 contig reference A Lys [K] 2 1974 exon_43 14875479 6076 rs34078184 0.102 synonymous C Tyr [Y] 3 1921 contig reference T Tyr [Y] 3 1921 exon_39 14879545 5689 rs13306077 0.008 synonymous T Thr [T] 3 1792 contig reference C Thr [T] 3 1792 exon_37 14881994 5347 rs13306075 0.015 synonymous A Gln [Q] 3 1678 contig reference G Gln [Q] 3 1678 exon_36 14883305 5256 rs1883024 N.D. missense C Pro [P] 2 1648 contig reference T Leu [L] 2 1648 exon_35 14884005 5077 rs9282547 0.010 synonymous C Asn [N] 3 1588 contig reference T Asn [N] 3 1588 14884009 5073 rs2230808 0.492 missense G Arg [R] 2 1587 contig reference A Lys [K] 2 1587 exon_34 14885574 4977 rs1997618 N.D. missense C Thr [T] 2 1555 contig reference T Ile [I] 2 1555 exon_32 14888135 4849 rs41277763 N.D. synonymous T Thr [T] 3 1512 contig reference G Thr [T] 3 1512 exon_31 14889751 4753 rs41494750 0.058 synonymous T Gly [G] 3 1480 contig reference G Gly [G] 3 1480 14889910 4594 rs2066716 0.310 synonymous A Thr [T] 3 1427 contig reference G Thr [T] 3 1427 exon_30 14893029 4510 rs73663551 N.D. synonymous A Thr [T] 3 1399 contig reference G Thr [T] 3 1399 exon_28 14896165 4258 rs35545593 0.120 synonymous A Gly [G] 3 1315 contig reference G Gly [G] 3 1315 exon_26 14897937 4076 rs41436749 0.039 missense C Arg [R] 1 1255 contig reference A Ser [S] 1 1255 exon_25 14899683 3997 rs2230807 0.148 synonymous A Arg [R] 3 1228 contig reference G Arg [R] 3 1228 14899734 3946 rs34788556 0.050 synonymous G Glu [E] 3 1211 contig reference A Glu [E] 3 1211 exon_24 14900837 3829 rs33918808 0.144 missense C Asp [D] 3 1172 contig reference G Glu [E] 3 1172 exon_23 14902247 3677 rs35204915 0.188 synonymous T Leu [L] 1 1122 contig reference C Leu [L] 1 1122 14902325 3599 rs13306073 N.D. missense A Ile [I] 1 1096 contig reference G Val [V] 1 1096 exon_22 14903109 3517 rs55814314 N.D. Yes synonymous T Arg [R] 3 1068 contig reference C Arg [R] 3 1068 14903153 3473 rs13306072 0.005 missense A Ile [I] 1 1054 contig reference G Val [V] 1 1054 14903154 3472 rs35871586 0.026 Yes synonymous G Val [V] 3 1053 contig reference T Val [V] 3 1053 exon_21 14903503 3326 rs2482437 N.D. missense A Lys [K] 1 1005 contig reference G Glu [E] 1 1005 14903546 3283 rs41277767 N.D. Yes synonymous T Val [V] 3 990 contig reference C Val [V] 3 990 exon_20 14904953 3181 rs35561837 0.028 Yes synonymous T Thr [T] 3 956 contig reference C Thr [T] 3 956 exon_19 14905996 3127 rs9282546 0.021 Yes synonymous A Gly [G] 3 938 contig reference G Gly [G] 3 938 exon_18 14907958 2962 rs2066714 0.486 missense G Met [M] 3 883 contig reference A Ile [I] 3 883 14908005 2915 rs35207495 0.025 missense A Lys [K] 1 868 contig reference G Glu [E] 1 868 exon_17 14909220 2804 rs2472458 N.D. missense A Asn [N] 1 831 contig reference G Asp [D] 1 831 14909238 2786 rs2066715 0.026 missense A Ile [I] 1 825 contig reference G Val [V] 1 825 exon_16 14910451 2633 rs35819696 0.016 missense C Pro [P] 1 774 contig reference A Thr [T] 1 774 14910460 2624 rs2066718 0.076 missense A Met [M] 1 771 contig reference G Val [V] 1 771 exon_15 14912477 2353 rs2853579 0.478 synonymous A Ile [I] 3 680 contig reference C Ile [I] 3 680 14912522 2308 rs2472455 N.D. synonymous G Ala [A] 3 665 contig reference A Ala [A] 3 665 14912540 2290 rs34083760 0.025 synonymous T Ile [I] 3 659 contig reference C Ile [I] 3 659 exon_14 14914513 2103 rs2853578 N.D. missense G Arg [R] 2 597 contig reference A Gln [Q] 2 597 14914544 2072 rs2853574 N.D. missense T Trp [W] 1 587 contig reference C Arg [R] 1 587 exon_13 14915187 1949 rs13306068 N.D. missense G Val [V] 1 546 contig reference A Ile [I] 1 546 14915188 1948 rs9282539 0.013 synonymous T Ser [S] 3 545 contig reference C Ser [S] 3 545 14915293 1843 rs34590907 0.027 synonymous G Leu [L] 3 510 contig reference A Leu [L] 3 510 exon_11 14920534 1556 rs4131108 N.D. missense C Leu [L] 1 415 contig reference A Met [M] 1 415 14920581 1509 rs9282543 0.012 missense C Ala [A] 2 399 contig reference T Val [V] 2 399 exon_9 14923871 1261 rs2246841 0.265 synonymous A Gly [G] 3 316 contig reference G Gly [G] 3 316 14923883 1249 rs2274873 0.184 synonymous T Pro [P] 3 312 contig reference C Pro [P] 3 312 exon_7 14942040 1001 rs9282541 0.010 missense T Cys [C] 1 230 contig reference C Arg [R] 1 230 14942072 969 rs2230806 0.492 missense A Lys [K] 2 219 contig reference G Arg [R] 2 219 14942077 964 rs9282538 0.020 synonymous G Leu [L] 3 217 contig reference A Leu [L] 3 217 exon_6 14945234 787 rs2230805 0.443 synonymous A Leu [L] 3 158 contig reference G Leu [L] 3 158 exon_4 14967959 568 rs34250431 N.D. frame shift C Pro [P] 3 85 contig reference -/G Pro [P] 3 85 exon_1 14987165 314 start codon 1

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Revised: May 25, 2006 1:38 PM .