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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2241088          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_005027.2:c.700C>A
NP_005018.1:p.Arg234Ser
NT_011295.10:g.9534992A>C
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 ss41040166 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2241088 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
ss3196920YUSUKE|IMS-JST012842fwd/TA/Cttcctgctccagcacctgggccgcgtggccgccgcgccccggccctgggtcccgcggtcc08/07/0110/10/0398Genomicunknown
ss41040166ABI|hCV15872380fwd/TA/Cttcctgctccagcacctgggccgcgtggccgccgcgccccggccctgggtcccgcggtcc07/17/0507/17/05126Genomicunknown
ss82437331HGSV|Cor19240_SNV_20070510.chr19_18133190fwd/TA/Cttcctgctccagcacctgggccgcgtggccgccgcgccccggccctgggtcccgcggtcc11/30/0712/02/07130Genomicunknown
ss96257267HUMANGENOME_JCVI|1103691104586fwd/TA/Cttcctgctccagcacctgggccgcgtggccgccgcgccccggccctgggtcccgcggtcc03/25/0803/26/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2241088|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 TGGGACACGG CAGCCCTGGC TGACGGCATT AAGAGCTTCC TGCTGGCACT GCCCGCGCCG
 CTCGTGACCC CCGAGGCCTC GGCCGAGGCG CGCCGGGCCC TGCGGGGTGA GCCTGGCGGG
 TAGCCCGGGG GAAGGAGGGG GCTGTAGCGG GTGGGAGGGC CCAGGCCTGG CTCACCCTGC
 CCTGGCCATC TGTCCGCAGA GGCCGCGGGG CCCGTGGGGC CGGCGCTGGA GCCACCGACG
 CTGCCGCTGC ACCGCGCGCT CACGCTGCGC TTCCTGCTCC AGCACCTGGG CCGCGTGGCC
 M
 GCCGCGCCCC GGCCCTGGGT CCCGCGGTCC GGGCCCTGGG CGCCACCTTT GGGCCGCTGC
 TGCTGCGCGC GCCGCCGCCG CCGTCCTCGC CGCCGCCAGG GGGCGCTCCC GACGGGTGAG
 GGGCGGGGCG GAGCCGGAGC GAGCAGGGGT GGAGTTTGGG GTGGGGCGGG CGGGGCATGG
 CCAGAGTGAG CGGCGTCTAG ACCCTAAGAA GGGAGGGGAT GGGGTCCAGA GTGAGAAGCT
 GCGTTCTTGT GATGACGGAG CGGAGACCTG GGCTCCTGAG TCGTGGGACA GAAGGTGAAG

  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
NC_000019 ABBA01051248
dbSNP Blast Analysis
UniGene Cluster ID
371344

  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
byCluster UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .