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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4851223          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_001025108.1:c.1148A>G
NM_002285.2:c.1073A>G
NP_001020279.1:p.Asn383Ser
NP_002276.2:p.Asn358Ser
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss91269655 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4851223 during BLAST analysis for the current build.

NCBI
Assay ID		Handle|Submitter IDValidation
Status		ss to rs
Orientation
/Strand		Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date		Update
Date		Build
Added		Molecule
Type		Freq
Warning		Ancestral
Allele		Success
Rate
ss6702318WI_SSAHASNP|NT_022171.11_2411547fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt02/12/0310/10/03111Genomicunknown
ss11439972WI_SSAHASNP|chr2.NT_022171.13_2409581fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt07/03/0310/10/03116Genomicunknown
ss16815958CSHL-HAPMAP|CSHL-HuAA-200402.chr2.NT_022171.13_2409581fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt02/17/0403/04/04120Genomicunknown
ss19414604CSHL-HAPMAP|CSHL-HuDD-200402.chr2.NT_022171.13_2409581fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt02/20/0403/04/04120Genomicunknown
ss21590548SSAHASNP|WGSA-200403-chr2.chr2.NT_022171.13_2409581fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt03/20/0403/20/04121Genomicunknown
ss35032450WUGSC_SNP|609J13o1rev/TA/Gaaggtgatgcagagccagagagtccagacatggcacatcgaatacatcgtaagtttcttt02/01/05125Genomicunknown
ss74885643ILLUMINA|ILMN_Human_1M_rs4851223fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt08/28/0708/29/07129Genomicunknown
ss77544569HGSV|Cor12156_SNV_20070510.chr2_99802075fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt10/09/0710/13/07129Genomicunknown
ss80033504HGSV|Cor18507_SNV_20070510.chr2_99802075fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt11/23/0711/24/07130Genomicunknown
ss83493995HGSV|Cor18956_SNV_20070510.chr2_99802075fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt11/30/0712/05/07130Genomicunknown
ss83960928HGSV|Cor19240_SNV_20070510.chr2_99802075fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt11/30/0712/06/07130Genomicunknown
ss91269655BCMHGSC_JDW|JWB-1278224fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt02/26/0803/01/08129Genomicunknown
ss106105264BGI|BGI_rs4851223fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt09/13/0806/18/09130Genomicunknown
ss1097226731000GENOMES|CEU.trio.12.15.2008_429705_chr2_99709989fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt12/15/0812/16/08130Genomicunknown
ss1106420021000GENOMES|NA19240_2008_12_16_391043_chr2_99709989fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt12/16/0812/17/08130Genomicunknown
ss117803140ILLUMINA-UK|NA18507_000126272_NCBI36.1_chr2_99709989fwd/BC/Taaagaaacttacgatgtattcgatgtgccatgtctggactctctggctctgcatcacctt01/19/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4851223|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CATTTCTACT TCATAAAGAG AAGCATTTGC ATTTTTCAAG ATTCCTCTTA CTCTGCTAAA
 GCATAAAAAA TGCATCTGCA CCCAAAGCAT TTAGAAAGAC ATTATCATGA GAAAAGAGAA
 CCATGGGCTT CCTTCCATCA TCATTATTAC TATTACAAGA TACTTGCACT ATCTCATTTT
 ATGAGGCATA TTTAAGAACA GGCATCTCTG ATAGAAAATG AAAGAAACTT ACGATGTATT
 CGATGTGCCA
 Y
 TGTCTGGACT CTCTGGCTCT GCATCACCTT TCTCTTAAAA AGGAAGCAGA AAAAAATACC
 GACATATGAG TCTTACAGTC TTTAAGATTT AAGAGAGATT AAATATATTT CCATGCTCCT
 ATTAACAATC TTTCAAAATG TGTAGCAGGA GGCTTTTAAA ACATCTTTTA TTGTCTGAGA
 ACCGGATTTG CAAAATAATT TCTTTTCTGC AATGCAACTG CCCAGGCACA AATCTGTGAG
 TAGGTACTGA

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_022171 NM_002285
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source T/T
 HWP T
ss6702318 HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
525 409 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  NCBI
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .