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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs809749          
refSNP ID: rs809749
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_004188.3:c.814+419G>C
NT_035014.4:g.2642653G>C
Links

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 ss1970803 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs809749 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
ss1051571KWOK|OVLP-000804-310125fwd/TC/Ggagcaaatgagtgaacaaatgaatgaatgatgaacaaatgaatgagcaaatgaatgagtg09/02/0010/10/0386Genomic95 %
ss1970803KWOK|OVLP-000925-351409fwd/TC/Ggagcaaatgagtgaacaaatgaatgaatgatgaacaaatgaatgagcaaatgaatgagtg10/06/0010/10/0387Genomic95 %
ss3921959SC_JCM|AL162417.15_10277rev/BC/Gcactcattcatttgctcattcatttgttcatcattcattcatttgttcactcatttgctc09/25/0110/10/03100Genomicunknown
ss43316953ABI|hCV27224473rev/C/Gcactcattcatttgctcattcatttgttcatcattcattcatttgttcactcatttgctc07/18/0507/18/05126Genomicunknown
ss94181594BCMHGSC_JDW|JWB-2656727rev/C/Gcactcattcatttgctcattcatttgttcatcattcattcatttgttcactcatttgctc02/26/0803/06/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs809749|allelePos=533|totalLen=898|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 AGCGCAGCAC AGCAAGGGCG GGGTCAGGGC CTCCTCACCA GGCCTGCTGC TCCCCTGCCC
 TGCCCCCGGG TTCATTTTCC AATACCTTCC TGTGTTTTCT CTCATGGCCA ACTCACATTC
 ACTTTAGAAA ATAATTAGAA AAGAGAGAGA AGCAAAGATA CAACTTGGAC CCTCCTCCAc
 ccctactgga ttatagggtg gttaggggca gctgccgagt catcttgttt atcaatacat
 ctccaagcct ggtatacctg gcacaaaaga ggcactcagc taatAGCAAG GAGGCaatga
 ataagcaagt gaatgaatga gtgaatgaat gaataagcaa atgaatgagt gaacaaatga
 atgagcaaat gagtgagcga atgtgtgaat aaatgagcaa atgagtgaat gagtgaacaa
 atgaatcaac aaatgaatga atgagtgaac aaatgaatga gcaaatgagt gaacaaatga
 atgaatgagt gaacaaatga atgagcaaat gagtgaacaa atgaatgaat ga
 S
 tgaacaaatg aatgagcaaa tgaatgagtg aacaaatgaa tgagcaaatg aatgaatgag
 tgaacaaatg aatgagcaaa tgagtgagcg aatgtgtgaa taaatgagca aatgagtgaa
 caaatgaatg agcaagtgag tgagtgaatg agtgaacaaa tgaatgaGCA GTTCGCCTGC
 TAGTCTCATG TCTGCCATGA GATCAACAGT GTTGAGATTT TGCTGTTTCC TCCCTGTATT
 TTTTTCCATG CATTAAGTGC ACTTAAGTAG CACAGGTGCC CAGCCCTCCA TCAGCAGTGG
 CCTTTGACTT TGTAACTAGA CCCCGCCCCC AGCCTCACGC TGGGGGCCTC TGATGCATCT
 CTCAG

  GeneView back to top
GeneView via analysis of contig annotation: GFI1B growth factor independent 1B transcription repressor
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_035014->NM_004188
function
HuRefNW_001839241->NM_004188
function
CeleraNW_924573->NM_004188
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_035014->NM_004188->NP_0041792642653forwardintron
HuRefNW_001839241->NM_004188->NP_004179594622reverseintron
CeleraNW_924573->NM_004188->NP_00417919895283forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs809749 maps exactly once on NCBI human chromosome 9
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
9NW_001839241.2594622105359392plusGalt_assembly_8HuRefHuRefview532
9NW_924573.119895283106407452minusGalt_assembly_1CeleraCeleraview532
9NT_035014.42642653134855534minusGref_assemblyreferencereferenceview532

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AL162417 AC000393 AL162417.6 AL162417.7
dbSNP Blast Analysis
GenBank HTGS Finished:
AL593851.6

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .