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): 9 mrna transcript protein mrna orientation Contig Contig Label List SNP NM_001007257.1 plus strand NP_001007258.1 forward NT_004873.16 reference <- currently shown NM_001007257.1 plus strand NP_001007258.1 forward NW_925794.1 Celera View snp on GeneModel NM_001007257.1 plus strand NP_001007258.1 forward NW_001838562.1 HuRef View snp on GeneModel NM_012231.3 plus strand NP_036363.2 forward NT_004873.16 reference View snp on GeneModel NM_012231.3 plus strand NP_036363.2 forward NW_925794.1 Celera View snp on GeneModel NM_012231.3 plus strand NP_036363.2 forward NW_001838562.1 HuRef View snp on GeneModel NM_015866.3 plus strand NP_056950.2 forward NT_004873.16 reference View snp on GeneModel NM_015866.3 plus strand NP_056950.2 forward NW_925794.1 Celera View snp on GeneModel NM_015866.3 plus strand NP_056950.2 forward NW_001838562.1 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_004873.16 NM_001007257.1 NP_001007258.1 forward plus strand 17, 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 492503 200 start codon 1 exon_2 492508 205 rs35774161 N.D. frame shift C Asp [D] 3 2 contig reference - 3 2 exon_3 497925 393 rs35903969 N.D. frame shift G Trp [W] 2 65 contig reference - 2 65 497977 445 rs2076324 0.485 missense A Glu [E] 3 82 contig reference T Asp [D] 3 82 498129 597 rs41269803 N.D. missense A Tyr [Y] 2 133 contig reference G Cys [C] 2 133 498136 604 rs1203678 0.442 synonymous A Glu [E] 3 135 contig reference G Glu [E] 3 135 498220 688 rs56201064 N.D. Yes synonymous C His [H] 3 163 contig reference T His [H] 3 163 498477 945 rs17350795 0.028 missense A Asn [N] 2 249 contig reference G Ser [S] 2 249 498760 1228 rs56057569 N.D. synonymous A Pro [P] 3 343 contig reference G Pro [P] 3 343 498857 1325 rs59231619 N.D. missense T Tyr [Y] 1 376 contig reference A Asn [N] 1 376 499232 1700 rs2308040 0.495 synonymous CTC 1 501 contig reference - 1 501 499237 1705 rs59028030 N.D. synonymous CCT 3 502 contig reference - 3 502 499857 2325 rs41269805 N.D. missense A Asn [N] 2 709 contig reference C Thr [T] 2 709 500198 2666 rs41269807 N.D. missense A Thr [T] 1 823 contig reference T Ser [S] 1 823 500406 2874 rs41269809 N.D. missense T Val [V] 2 892 contig reference C Ala [A] 2 892 500433 2901 rs35613631 N.D. frame shift G Arg [R] 2 901 contig reference - 2 901 501595 4063 rs57173229 N.D. frame shift - 3 1288 contig reference A Lys [K] 3 1288 501952 4420 rs1203651 0.459 synonymous G Ser [S] 3 1407 contig reference A Ser [S] 3 1407

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .