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_001039581.1 plus strand NP_001034670.1 forward NW_001030605.1 Celera <- currently shown NM_001039581.1 plus strand NP_001034670.1 forward NT_039649.7 C57BL/6J View snp on GeneModel NM_013855.2 plus strand NP_038883.2 forward NW_001030605.1 Celera View snp on GeneModel NM_013855.2 plus strand NP_038883.2 forward NT_039649.7 C57BL/6J 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 Celera NW_001030605.1 NM_001039581.1 NP_001034670.1 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 1212466 464 start codon 1 exon_4 1212802 694 rs47713932 N.D. synonymous C Thr [T] 3 77 contig reference T Thr [T] 3 77 1212859 751 rs51550386 N.D. synonymous A Thr [T] 3 96 contig reference G Thr [T] 3 96 1212865 757 rs49553592 N.D. synonymous A Lys [K] 3 98 contig reference G Lys [K] 3 98 exon_6 1214798 1012 rs46808659 N.D. synonymous A Ser [S] 3 183 contig reference G Ser [S] 3 183 1214822 1036 rs50026577 N.D. synonymous T Pro [P] 3 191 contig reference C Pro [P] 3 191 1214852 1066 rs52020443 N.D. synonymous T Gly [G] 3 201 contig reference C Gly [G] 3 201 1214861 1075 rs48138472 N.D. synonymous G Pro [P] 3 204 contig reference T Pro [P] 3 204 exon_8 1223753 1435 rs29498937 N.D. synonymous C Thr [T] 3 324 contig reference G Thr [T] 3 324 exon_10 1225038 1636 rs47863617 N.D. synonymous T Phe [F] 3 391 contig reference C Phe [F] 3 391 exon_11 1229275 1792 rs49670452 N.D. synonymous G Val [V] 3 443 contig reference C Val [V] 3 443 1229282 1799 rs48014822 N.D. missense A Asn [N] 1 446 contig reference G Asp [D] 1 446 exon_12 1231309 2005 rs49824473 N.D. synonymous C Leu [L] 3 514 contig reference T Leu [L] 3 514 1231336 2032 rs49455698 N.D. synonymous A Pro [P] 3 523 contig reference G Pro [P] 3 523 exon_13 1231859 2152 rs33224334 N.D. synonymous C Val [V] 3 563 contig reference T Val [V] 3 563 exon_15 1233250 2437 rs33200982 N.D. synonymous T Arg [R] 3 658 contig reference C Arg [R] 3 658 1233256 2443 rs33242362 N.D. synonymous A Leu [L] 3 660 contig reference G Leu [L] 3 660 exon_16 1233729 2707 rs46006305 N.D. synonymous A Leu [L] 3 748 contig reference G Leu [L] 3 748 exon_17 1234898 2836 rs50513599 N.D. synonymous G Gly [G] 3 791 contig reference A Gly [G] 3 791 1234931 2869 rs33600952 N.D. synonymous C Ser [S] 3 802 contig reference T Ser [S] 3 802 exon_20 1245026 3383 rs45868931 N.D. missense A Ser [S] 1 974 contig reference G Gly [G] 1 974 exon_21 1245849 3668 rs33292084 N.D. missense C Arg [R] 1 1069 contig reference T Trp [W] 1 1069 1245850 3669 rs33374803 N.D. nonsense A [Ter[*]] 2 1069 contig reference G Trp [W] 2 1069 1245899 3718 rs33440251 N.D. synonymous G Gln [Q] 3 1085 contig reference A Gln [Q] 3 1085 exon_22 1247278 3820 rs29521021 N.D. synonymous T Ala [A] 3 1119 contig reference C Ala [A] 3 1119 1247348 3890 rs33349914 N.D. missense T Phe [F] 1 1143 contig reference C Leu [L] 1 1143 exon_25 1249668 4414 rs33521872 N.D. synonymous C Tyr [Y] 3 1317 contig reference T Tyr [Y] 3 1317 exon_26 1252448 4609 rs13474134 N.D. synonymous C Ile [I] 3 1382 contig reference T Ile [I] 3 1382 exon_27 1252710 4780 rs33224746 N.D. synonymous T Asp [D] 3 1439 contig reference C Asp [D] 3 1439 1252746 4816 rs33385712 N.D. synonymous C Ile [I] 3 1451 contig reference T Ile [I] 3 1451 exon_28 1254984 4918 rs51222570 N.D. synonymous T Gly [G] 3 1485 contig reference C Gly [G] 3 1485 exon_29 1255497 5068 rs29536226 N.D. synonymous C Val [V] 3 1535 contig reference T Val [V] 3 1535 1255521 5092 rs51600977 N.D. synonymous T Thr [T] 3 1543 contig reference C Thr [T] 3 1543 1255533 5104 rs33564537 N.D. synonymous A Pro [P] 3 1547 contig reference T Pro [P] 3 1547 exon_30 1256015 5329 rs33300188 N.D. synonymous C Asp [D] 3 1622 contig reference T Asp [D] 3 1622

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Revised: May 25, 2006 1:38 PM .