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_005961.2 minus strand NP_005952.2 reverse NT_035113.6 reference <- currently shown NM_005961.2 minus strand NP_005952.2 reverse NW_001838016.1 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_035113.6 NM_005961.2 NP_005952.2 reverse minus strand 66, 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_32 953987 7105 rs10902268 N.D. missense T Trp [W] 1 2352 contig reference C Arg [R] 1 2352 exon_31 956177 6675 rs35595000 N.D. frame shift A Ile [I] 3 2208 contig reference - 3 2208 956724 6128 rs3208810 N.D. missense C Thr [T] 2 2026 contig reference T Ile [I] 2 2026 956776 6076 rs33988517 N.D. missense A Ile [I] 1 2009 missense C Leu [L] 1 2009 contig reference G Val [V] 1 2009 956818 6034 rs55903826 N.D. missense G Asp [D] 1 1995 contig reference T Tyr [Y] 1 1995 956833 6019 rs10751676 N.D. missense A Lys [K] 1 1990 contig reference C Gln [Q] 1 1990 956834 6018 rs34740154 N.D. synonymous T Phe [F] 3 1989 contig reference C Phe [F] 3 1989 956842 6010 rs34490696 N.D. missense C Pro [P] 1 1987 contig reference A Thr [T] 1 1987 956869 5983 rs35469308 N.D. missense A Ile [I] 1 1978 contig reference T Phe [F] 1 1978 956894 5958 rs34281988 N.D. synonymous T His [H] 3 1969 contig reference C His [H] 3 1969 956918 5934 rs34375705 N.D. synonymous A Arg [R] 3 1961 contig reference G Arg [R] 3 1961 956928 5924 rs34053383 N.D. missense C Thr [T] 2 1958 contig reference G Ser [S] 2 1958 956933 5919 rs12793421 N.D. synonymous A Ser [S] 3 1956 contig reference G Ser [S] 3 1956 956937 5915 rs10902269 0.005 missense A Asn [N] 2 1955 contig reference C Thr [T] 2 1955 956965 5887 rs56319984 N.D. missense C Arg [R] 1 1946 contig reference G Gly [G] 1 1946 956968 5884 rs34243203 N.D. missense C Pro [P] 1 1945 contig reference A Thr [T] 1 1945 956972 5880 rs12787762 N.D. synonymous T Thr [T] 3 1943 contig reference C Thr [T] 3 1943 956984 5868 rs12787777 N.D. synonymous T Thr [T] 3 1939 contig reference C Thr [T] 3 1939 956995 5857 rs35167154 N.D. missense G Ala [A] 1 1936 contig reference A Thr [T] 1 1936 957029 5823 rs35621365 N.D. synonymous C Ser [S] 3 1924 contig reference A Ser [S] 3 1924 957084 5768 rs34649796 N.D. missense T Leu [L] 2 1906 contig reference C Pro [P] 2 1906 957110 5742 rs36130410 N.D. synonymous A Pro [P] 3 1897 contig reference G Pro [P] 3 1897 957158 5694 rs36143620 N.D. synonymous A Thr [T] 3 1881 contig reference C Thr [T] 3 1881 957183 5669 rs34844844 N.D. missense A Gln [Q] 2 1873 contig reference C Pro [P] 2 1873 957211 5641 rs36128067 N.D. missense A Thr [T] 1 1864 contig reference G Ala [A] 1 1864 957220 5632 rs56238842 N.D. missense G Ala [A] 1 1861 contig reference A Thr [T] 1 1861 957231 5621 rs35840539 N.D. missense C Thr [T] 2 1857 contig reference T Ile [I] 2 1857 957239 5613 rs56386804 N.D. synonymous A Thr [T] 3 1854 contig reference G Thr [T] 3 1854 957240 5612 rs62891761 N.D. missense T Met [M] 2 1854 contig reference C Thr [T] 2 1854 957302 5550 rs35330958 N.D. missense G Gln [Q] 3 1833 contig reference C His [H] 3 1833 957317 5535 rs33943903 N.D. synonymous A Thr [T] 3 1828 contig reference C Thr [T] 3 1828 957337 5515 rs34232586 N.D. synonymous TG 1 1822 contig reference GA 1 1822 957381 5471 rs34912894 N.D. missense G Ser [S] 2 1807 contig reference C Thr [T] 2 1807 957384 5468 rs34095361 N.D. missense G Ser [S] 2 1806 contig reference C Thr [T] 2 1806 957421 5431 rs35549382 N.D. missense A Thr [T] 1 1794 contig reference C Pro [P] 1 1794 957552 5300 rs35868469 N.D. missense G Arg [R] 2 1750 contig reference A His [H] 2 1750 957761 5091 rs55771618 N.D. synonymous G Gln [Q] 3 1680 contig reference A Gln [Q] 3 1680 957773 5079 rs57384288 N.D. synonymous T Ser [S] 3 1676 contig reference C Ser [S] 3 1676 957783 5069 rs36101709 N.D. missense C Pro [P] 2 1673 contig reference T Leu [L] 2 1673 957877 4975 rs35865134 N.D. missense C Pro [P] 1 1642 contig reference T Ser [S] 1 1642 958021 4831 rs12793242 N.D. missense C Pro [P] 1 1594 contig reference A Thr [T] 1 1594 958025 4827 rs10751677 N.D. synonymous T Thr [T] 3 1592 contig reference G Thr [T] 3 1592 958031 4821 rs10751678 N.D. synonymous T Pro [P] 3 1590 contig reference C Pro [P] 3 1590 958048 4804 rs12787400 N.D. missense A Ile [I] 1 1585 contig reference T Phe [F] 1 1585 958069 4783 rs10736904 N.D. missense T Ser [S] 1 1578 contig reference C Pro [P] 1 1578 958073 4779 rs12807042 N.D. synonymous T His [H] 3 1576 contig reference C His [H] 3 1576 958142 4710 rs57449597 N.D. synonymous A Arg [R] 3 1553 contig reference C Arg [R] 3 1553 958144 4708 rs12807084 0.010 missense G Gly [G] 1 1553 contig reference C Arg [R] 1 1553 958157 4695 rs12807209 0.010 missense A Lys [K] 3 1548 contig reference C Asn [N] 3 1548 958175 4677 rs12418172 N.D. synonymous C Thr [T] 3 1542 contig reference T Thr [T] 3 1542 958200 4652 rs10902270 N.D. missense T Leu [L] 2 1534 contig reference A His [H] 2 1534 958217 4635 rs12422096 N.D. missense A Gln [Q] 3 1528 contig reference C His [H] 3 1528 958350 4502 rs34658805 N.D. missense C Thr [T] 2 1484 contig reference T Ile [I] 2 1484 958355 4497 rs7396697 N.D. synonymous C Gly [G] 3 1482 contig reference T Gly [G] 3 1482 958374 4478 rs7396383 N.D. missense T Ile [I] 2 1476 contig reference A Asn [N] 2 1476 958385 4467 rs7396380 N.D. synonymous T Thr [T] 3 1472 contig reference A Thr [T] 3 1472 958436 4416 rs12802800 N.D. synonymous A Val [V] 3 1455 contig reference G Val [V] 3 1455 exon_30 959375 3981 rs9704308 N.D. synonymous A Ala [A] 3 1310 contig reference G Ala [A] 3 1310 959489 3867 rs35999398 N.D. frame shift T Pro [P] 3 1272 contig reference - 3 1272 exon_29 960208 3741 rs28497432 N.D. synonymous T Ile [I] 3 1230 contig reference C Ile [I] 3 1230 exon_21 966029 2710 rs58887459 N.D. missense A Asn [N] 1 887 contig reference G Asp [D] 1 887 966048 2691 rs55965773 N.D. synonymous T Asp [D] 3 880 contig reference C Asp [D] 3 880 966084 2655 rs12801568 N.D. synonymous T Cys [C] 3 868 contig reference C Cys [C] 3 868 exon_16 967811 1906 rs7481521 0.330 missense A Met [M] 1 619 contig reference G Val [V] 1 619 exon_11 969135 1342 rs59763899 N.D. missense A Lys [K] 1 431 contig reference G Glu [E] 1 431 exon_10 969320 1234 rs11604757 0.069 missense A Arg [R] 1 395 contig reference G Gly [G] 1 395 exon_1 976655 52 start codon 1

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Revised: May 25, 2006 1:38 PM .