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_001083961.1 plus strand NP_001077430.1 forward NT_011109.15 reference <- currently shown NM_001083961.1 plus strand NP_001077430.1 forward NW_001838494.1 HuRef View snp on GeneModel NM_173636.4 plus strand NP_775907.4 forward NT_011109.15 reference View snp on GeneModel NM_173636.4 plus strand NP_775907.4 forward NW_001838494.1 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_011109.15 NM_001083961.1 NP_001077430.1 forward plus strand 22, 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 8814092 92 start codon 1 exon_2 8817908 277 rs11538454 N.D. synonymous T Leu [L] 3 62 contig reference C Leu [L] 3 62 exon_7 8827114 957 rs12327568 0.020 missense G Arg [R] 2 289 contig reference A Lys [K] 2 289 exon_9 8832577 1250 rs34840924 N.D. frame shift G Asp [D] 1 387 contig reference - 1 387 exon_11 8842281 1561 rs45567532 N.D. Yes synonymous T Asp [D] 3 490 contig reference C Asp [D] 3 490 exon_12 8843863 1732 rs2301734 0.271 Yes synonymous A Thr [T] 3 547 contig reference G Thr [T] 3 547 exon_13 8845827 1754 rs35055110 N.D. frame shift T Ser [S] 1 555 contig reference - 1 555 exon_15 8848309 1932 rs4805157 N.D. missense G Trp [W] 2 614 contig reference C Ser [S] 2 614 exon_19 8851869 2362 rs61494900 N.D. synonymous A Leu [L] 3 757 contig reference G Leu [L] 3 757 exon_22 8858547 2640 rs2285745 0.455 missense C Ser [S] 2 850 contig reference T Leu [L] 2 850 exon_23 8859910 2873 rs12610991 N.D. synonymous T Leu [L] 1 928 contig reference C Leu [L] 1 928 exon_24 8860411 3036 rs11540047 N.D. missense A Asn [N] 2 982 contig reference G Ser [S] 2 982 8860414 3039 rs35938064 N.D. frame shift C Pro [P] 2 983 contig reference - 2 983 exon_25 8860878 3157 rs3746269 N.D. synonymous A Ser [S] 3 1022 contig reference G Ser [S] 3 1022 exon_26 8861245 3285 rs34734597 N.D. frame shift A Lys [K] 2 1065 contig reference - 2 1065 exon_29 8862281 3559 rs17851502 N.D. synonymous T Leu [L] 3 1156 contig reference C Leu [L] 3 1156 exon_30 8862521 3664 rs1054040 N.D. synonymous T Asp [D] 3 1191 contig reference C Asp [D] 3 1191 8862587 3730 rs45470992 N.D. synonymous T Ser [S] 3 1213 contig reference C Ser [S] 3 1213 8862877 4020 rs2074435 0.398 missense T Leu [L] 2 1310 contig reference A Gln [Q] 2 1310 8862894 4037 rs35811023 0.020 missense G Glu [E] 1 1316 contig reference C Gln [Q] 1 1316 8862896 4039 rs4375791 N.D. synonymous A Gln [Q] 3 1316 contig reference G Gln [Q] 3 1316 8863071 4214 rs17851503 N.D. missense A Ser [S] 1 1375 contig reference G Gly [G] 1 1375 exon_31 8863654 4261 rs1008328 0.374 missense C Phe [F] 3 1390 contig reference A Leu [L] 3 1390

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Revised: May 25, 2006 1:38 PM .