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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs35948511          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/130
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_153330.2:c.457A>C
NP_699161.1:p.Met153Leu
NT_005612.15:g.34676778T>G
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 ss48408484 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35948511 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
ss48408484APPLERA_GI|hCV25640981byFreqfwd/TA/Cgccttcatggaggccttctcatccttcaactgctgggctgcagcgggggcagccacacca09/28/0511/03/06126Genomicunknown
ss68875010PERLEGEN|PGP17791175byFreqrev/BG/Ttggtgtggctgcccccgctgcagcccagcagttgaaggatgagaaggcctccatgaaggc01/30/0703/31/08127Genomicunknown
ss1109047841000GENOMES|NA19240_2008_12_16_718150_chr3_129664322rev/BG/Ttggtgtggctgcccccgctgcagcccagcagttgaaggatgagaaggcctccatgaaggc12/16/0812/17/08130Genomicunknown
ss117268368ILLUMINA-UK|NA18507_000166972_NCBI36.1_chr3_129664322rev/BG/Ttggtgtggctgcccccgctgcagcccagcagttgaaggatgagaaggcctccatgaaggc01/18/0901/19/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs35948511|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 TATGAGGTTC TGTCTGACTC CAAGAAACGC TCCCTGTATG ACCGTGCTGG CTGTGACAGC
 TGGCGGGCTG GTGGCGGGGC CAGCACGCCC TACCACAGCC CCTTCGACAC CGGCTACACC
 TTCCGTAACC CTGAGGACAT CTTCCGGGAG TTTTTCGGTG GCCTGGACCC TTTCTCCTTT
 GAGTTCTGGG ACAGCCCATT CAATAGTGAC CGTGGTGGCC GGGGCCATGG CCTGAGGGGG
 GCCTTCTCGG CAGGCTTTGG AGAATTTCCG GCCTTCATGG AGGCCTTCTC ATCCTTCAAC
 M
 TGCTGGGCTG CAGCGGGGGC AGCCACACCA CCTTCTCATC CACCTCCTTC GGGGGCTCCA
 GTTCTGGCAG CTCGGGGTTC AAGTCGGTGA TGTCGTCCAC CGAGATGATC AATGGCCACA
 AGGTCACCAC CAAGCGCATC GTGGAGAACG GGCAGGAGCG CGTGGAGGTG GAGGAAGACG
 GGCAGCTCAA GTCGGTGACT GTGAACGGCA AGGAGCAGCT CAAATGGATG GACAGCAAGT
 AGGCGCTGGC CACCCGGCCC TGCCTTCCCA CCACCACCAC CGTGCATGGG GCAGCAAACA

  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_000003.9
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source A/A
A/C
HWP A
C
ss48408484 AGI_ASP population multiple 76 IG 0.895 0.105 0.752 0.947 0.053
ss68875010 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.783 0.217 0.892 0.108

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.066+/-0.169 308 248 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
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .