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_139314.1 plus strand NP_647475.1 forward NT_077812.2 reference <- currently shown NM_001039667.1 plus strand NP_001034756.1 forward NT_077812.2 reference 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_077812.2 NM_139314.1 NP_647475.1 forward plus strand 15, 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 1033202 196 start codon 1 exon_2 1034882 562 rs11544610 N.D. missense A Met [M] 1 123 contig reference G Val [V] 1 123 exon_3 1035082 625 rs3210978 N.D. missense A Ile [I] 1 144 contig reference T Phe [F] 1 144 1035083 626 rs3210979 N.D. missense C Ser [S] 2 144 contig reference T Phe [F] 2 144 exon_4 1038181 825 rs35571542 0.027 Yes synonymous A Pro [P] 3 210 contig reference G Pro [P] 3 210 exon_6 1040160 992 rs1044250 0.327 missense T Met [M] 2 266 contig reference C Thr [T] 2 266 1040196 1028 rs35061979 0.059 missense A Gln [Q] 2 278 contig reference G Arg [R] 2 278 1040284 1116 rs10404615 0.103 Yes synonymous T Pro [P] 3 307 contig reference C Pro [P] 3 307 exon_7 1042625 1275 rs3183953 0.083 Yes synonymous T Asn [N] 3 360 contig reference C Asn [N] 3 360 1042712 1362 rs11672433 0.389 Yes synonymous A Pro [P] 3 389 contig reference G Pro [P] 3 389 1042751 1401 rs3210980 N.D. synonymous G Ala [A] 3 402 contig reference A Ala [A] 3 402 1042754 1404 rs3210981 N.D. missense C Asp [D] 3 403 contig reference G Glu [E] 3 403 1042755 1405 rs3210982 N.D. missense T Ser [S] 1 404 contig reference G Ala [A] 1 404 1042759 1409 rs3210983 N.D. missense T Val [V] 2 405 contig reference C Ala [A] 2 405 1042761 1411 rs3210984 N.D. missense A Thr [T] 1 406 contig reference T Ser [S] 1 406 1042763 1413 rs3210985 N.D. synonymous A Ser [S] 3 406 contig reference C Ser [S] 3 406

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Revised: May 25, 2006 1:38 PM .