refSNP ID: rs11550417 Organism: human (Homo sapiens) Molecule Type: cDNA Created/Updated in build: 120/129 Map to Genome Build: 36.3 Allele Variation Class: SNP: single nucleotide polymorphism RefSNP Alleles: A/C Ancestral Allele: Not available Clinical Association: unknown HGVS Names NM_004436.2:c.42C>A NM_207042.1:c.42C>A NM_207043.1:c.42C>A NM_207044.1:c.42C>A NM_207168.1:c.42C>A NP_004427.1:p.T14T NP_996925.1:p.T14T NP_996926.1:p.T14T NP_996927.1:p.T14T NP_997051.1:p.T14T NT_004487.18:g.1092259G>T NT_004487.18:g.1092260G>T Links SNP Details are organized in the following sections: Submission Fasta Resource GeneView Map Diversity Validation   Submitter records for this RefSNP Cluster The submission ss16250820 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11550417 during BLAST analysis for the current build. NCBI Assay ID Handle|Submitter ID Validation Status ss to rs Orientation /Strand Alleles 5' Near Seq 30 bp 3' Near Seq 30 bp Entry Date Update Date Build Added Molecule Type Freq Warning Ancestral Allele Success Rate ss16250820 CGAP-GAI|1500897 fwd/T A/C acaagaagaagagaaccctgcggaggagac ggcgaggagaagcaggacacgcaggagaaa 11/18/03 11/22/03 120 cDNA unknown   Fasta sequence   (Legend) >gnl|dbSNP|rs11550417|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='A/C'|mol=cDNA|build=120 GGTCCCGCCA TGTCCCAGAA ACAAGAAGAA GAGAACCCTG CGGAGGAGAC M GGCGAGGAGA AGCAGGACAC GCAGGAGAAA GAAGGTATTC TGCCTGAGAG   GeneView GeneView via analysis of contig annotation: ENSA endosulfine alpha View variations for gene: Include clinically associated: in gene region cSNP has frequency double hit Group Label Contig->mRNA Gene Model (contig mRNA transcript) Color Legend reference NT_004487->NM_004436 function reference NT_004487->NM_207042 function reference NT_004487->NM_207043 function reference NT_004487->NM_207044 function reference NT_004487->NM_207045 function reference NT_004487->NM_207046 function reference NT_004487->NM_207047 function reference NT_004487->NM_207168 function " Group label Contig-->mRNA-->Protein Contig position mRNA orientation mRNA pos Function dbSNP allele Protein residue Codon pos Amino acid pos reference NT_004487->NM_004436->NP_004427 1092260 reverse 194 synonymous A Thr [T] 3 14 contig reference C Thr [T] 3 14 reference NT_004487->NM_207042->NP_996925 1092260 reverse 194 synonymous A Thr [T] 3 14 contig reference C Thr [T] 3 14 reference NT_004487->NM_207043->NP_996926 1092260 reverse 194 synonymous A Thr [T] 3 14 contig reference C Thr [T] 3 14 reference NT_004487->NM_207044->NP_996927 1092260 reverse 194 synonymous A Thr [T] 3 14 contig reference C Thr [T] 3 14 reference NT_004487->NM_207045->NP_996928 1092260 reverse 5' near gene reference NT_004487->NM_207046->NP_996929 1092260 reverse 5' near gene reference NT_004487->NM_207047->NP_996930 1092260 reverse 5' near gene reference NT_004487->NM_207168->NP_997051 1092260 reverse 194 synonymous A Thr [T] 3 14 contig reference C Thr [T] 3 14 GeneView: no link established by BLAST analysis of mRNA sequences   Integrated Maps: NCBI MapViewer:  rs11550417 maps exactly once on NCBI human chromosome 1 Chromosome Contig accession Contig position Chromosome position Hit orientation Contig Allele Assembly Type Group label Contig label Neighbor SNP SNP_flank position 1 NW_001838529.1 797573 121979742 minus G alt_assembly_8 HuRef HuRef view 50 1 NW_925683.1 754480 123717654 minus G alt_assembly_1 Celera Celera view 50 1 NT_004487.18 1092260 148868529 minus G ref_assembly reference reference view 50   NCBI Resource Links Submitter-Referenced GenBank BI596994 BF207642 dbSNP Blast Analysis NCBI RefSeq NM (mRNA): GenBank mRNA: NM_004436.2 NM_207042.1 NM_207043.1 NM_207044.1 NM_207168.1 AF067170.1 AF157509.1 AF157510.1 BC000436.2 BC004461.1 BC069208.1 CR749580.1 X99906.1 UniGene Cluster ID 511916   Population Diversity There is no frequency data.   Validation Summary: Validation status Marker displays Mendelian segregation PCR results confirmed in multiple reactions Homozygotes detected in individual genotype data UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .