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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs1049568          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001037161.1:c.797G>A
NM_006821.4:c.983A>G
NM_203309.1:c.-214+15565G>C
NP_001032238.1:p.Arg266His
NP_006812.3:p.His328Arg
NT_026437.11:g.55009643G>A
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 ss12276986 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1049568 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
ss1523416LEE|364770fwd/TA/Ggctctgtggccaatgttgggggaaccttacctacaagggcgagaccctgccccctgtggg09/13/0010/10/0386cDNAunknown
ss4394210LEE|ge364770fwd/TA/Ggctctgtggccaatgttgggggaaccttacctacaagggcgagaccctgccccctgtggg04/25/0210/10/03106cDNAunknown
ss4414539LEE|e364770fwd/TA/Ggctctgtggccaatgttgggggaaccttacctacaagggcgagaccctgccccctgtggg04/26/0210/10/03106cDNAunknown
ss12276986WI_SSAHASNP|chr14.NT_026437.10_53929931fwd/TA/Ggctctgtggccaatgttgggggaaccttacctacaagggcgagaccctgccccctgtggg07/04/0311/10/03116Genomicunknown
ss12277895WI_SSAHASNP|chr14.NT_026437.10_53961789fwd/TA/Ggctctgtggccaatgttgggggaaccttacctacaagggcgagaccctgccccctgtggg07/04/0311/10/03117Genomicunknown
ss16242741CGAP-GAI|1482747rev/BC/Tcccacagggggcagggtctcgcccttgtaggtaaggttcccccaacattggccacagagc11/18/0311/22/03120cDNAunknown
ss21167141SSAHASNP|WGSA-200403-chr14.chr14.NT_026437.10_53961789fwd/TA/Ggctctgtggccaatgttgggggaaccttacctacaagggcgagaccctgccccctgtggg03/19/0403/19/04123Genomicunknown
ss24816580SEQUENOM|sqnm213239fwd/TA/Ggctctgtggccaatgttgggggaaccttacctacaagggcgagaccctgccccctgtggg06/18/0406/18/04123cDNAunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1049568|allelePos=501|totalLen=701|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=123
 GTCAGCCACC ACGCCCGGCC ATGAGATGAC GTACTTGTTG ATGACGACTC AGTTTAGTTA
 TGACAGTGGG AATGGGTGGC TCAGGTGGGA GACAGAAAAA GATCATGGGA GATAATGAGA
 TTAAGGAACT GAGAAACCAG AGTAATTGAT AGATCTTCCA CATGGTTATC ACCAAGAGTG
 GTGATGGACA AATTGTGGAA AGGAAGAGAT AGAGGGGAGG TAAATTCCCA AAGCTGCAAA
 TCTGGGTAAA TGGTAGAACC CAGATTCAGA CTCAGGTTCA ACTAACTTCC AGGGTGGGCA
 CAACTCACCA TATTCCACTG TTTGTGGAGC CATTCTTCTT CTTTTTCCTT TGTCCCTTTC
 TCAGGTAAAA GGTCCAGGAG TTGGGCTGCT TGGAATTTCC AAAGGGGGTG AGCTCTGCCT
 TTCCATGGCC TCTTTCCTGA AGGGCATCAC GGCTGCTGTC GTCATCAACG GCTCTGTGGC
 CAATGTTGGG GGAACCTTAC
 R
 CTACAAGGGC GAGACCCTGC CCCCTGTGGG CGTCAACAGA AATCGCATCA AGGTGACCAA
 AGATGGCTAT GCAGACATTG TGGATGTCCT GAACAGCCCT TTGGAAGGAC CTGACCAGAA
 GAGCTTCATT CCTGTGGAAA GGGCAGAGAG CACCTTCCTG TTCCTGGTAG GTCAGGATGA
 CCACAACTGG AAGAGTGAGT

  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
dbSTS GenBank
sqnm213239 NT_026437 BI256013 Hs.75437
dbSNP Blast Analysis
UniGene Cluster ID
446685

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .