Skip to main content
NCBI
 dbSNP
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
BUILD 130
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs4349          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:36/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_000789.2:c.2912+402G>C
NM_152830.1:c.1190+402G>C
NT_010783.14:g.20221155C>T
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 ss84876707 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4349 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
ss4738DEBNICK|dcp1-17634fwd/BC/Tctgtacagatccactctcacccctgacaggtcagaagctgccttccttggaggatggcgt05/03/9912/23/0336Genomicunknown
ss76432743AFFY|AFFY_6_1M_SNP_A-8293739rev/TA/Gggaaggcagcttctgacctgtcaggggtgaga08/28/0708/30/07129Genomicunknown
ss84149547PHARMGKB_PARC|PS206642_PA151796960_17064fwd/BC/Tctgtacagatccactctcacccctgacaggtcagaagctgccttccttggaggatggcgt12/06/0712/10/07130Genomicunknown
ss84149559PHARMGKB_PARC|PS206642_PA151797330_17064fwd/BC/Tctgtacagatccactctcacccctgacaggtcagaagctgccttccttggaggatggcgt12/06/0712/10/07130Genomicunknown
ss84876707HGSV|Cor19240_SNV_20070510.chr17_58922876fwd/BC/Tctgtacagatccactctcacccctgacaggtcagaagctgccttccttggaggatggcgt11/30/0712/08/07130Genomicunknown
ss104807801KRIBB_YJKIM|KHS1200137fwd/BC/Tctgtacagatccactctcacccctgacaggtcagaagctgccttccttggaggatggcgt07/10/0807/10/08130Genomicunknown
ss1137106731000GENOMES|NA19240_2008_12_16_3080156_chr17_58922876fwd/BC/Tctgtacagatccactctcacccctgacaggtcagaagctgccttccttggaggatggcgt12/18/0812/18/08130Genomicunknown
ss118097387ILLUMINA-UK|NA18507_000064312_NCBI36.1_chr17_58922876fwd/BC/Tctgtacagatccactctcacccctgacaggtcagaagctgccttccttggaggatggcgt01/20/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4349|allelePos=201|totalLen=701|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GCAACAGCTC TGTCAGCCTG GCCGCTGGGA AGTGCTCAAG GTCCCAGTCC TGGGTTTGAG
 CATGGTAGGC TGCCCCGCGT CCCTCCTTGG GAGCAGCCCC TGCATGGAGC TGGCCTCTCC
 CTGGGGGCAC ATGCTGTGAC ACAGGGAGGC ACACGAGGAT GTTGGGTGCT CTGTACAGAT
 CCACTCTCAC CCCTGACAGG
 Y
 TCAGAAGCTG CCTTCCTTGG AGGATGGCGT TTTAGTTACC TATTGCTGTG CAACCAAGCA
 CCCCAGAGCT TAGCCTTACG AAACAACCAG TTGATTTTGC TTATGATTTT ATGTGCCAGG
 AATTCAGGCA GTACACAGTG GAAATGGCCT TTCTCTACAG GGCCCCCTCT GTTGGGGGCA
 GCTCTCACAG CCGGGATGGC TCAATGGGGG CCATACGTCC AGAGCCCCAG TTCTGGCTGT
 CGGTTGAGGT CCTCGGTTTT TCCCATGTGG CAGATGCTGG GGCACATGTT CCCAGTGGCC
 TCTTGGCTCA CATGTTGGGT GCTTGGGGTG AGATGGCTGG AACGGCTGGA GGTGGGTCAG
 GCATCTCTCC AGGCTAGCTC GGGCGCCCTC CCAGCGTGGA ATCTGAGGTG GGCAGATTTA
 CCTGGCAGCC AGCATCCCCC ACAGCAACTA CTGACGCAGC CAGTTCTCAA GGCTAGGTCC
 AAAACTGGCC CAGAGTCACT

  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
AF118569
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 HWP C
 T
ss4738 HapMap-CEU European 106 IG 1.000 1.000
HapMap-HCB Asian 80 IG 1.000 1.000
HapMap-JPT Asian 82 IG 1.000 1.000
ss84149547 PA151796961 94 AF 0.872 0.128
ss84149559 PA151797331 94 AF 0.872 0.128

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
1034 829 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
byClusterwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .