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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs1791634          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_033033.3:c.655G>C
NP_149022.3:p.Glu219Gln
NT_029419.11:g.14938405C>G
XM_001718424.1:c.1358-677A>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 ss48401580 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1791634 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
ss2657460SC_JCM|AP002519.2_55069fwd/TC/Ggaagaggagctctccctgcgtccctgtgttagaatgagtttgttgccttgaagaaggtaa11/03/0010/10/0389Genomicunknown
ss2838394TSC-CSHL|TSC1019028fwd/TC/Ggaagaggagctctccctgcgtccctgtgttagaatgagtttgttgccttgaagaaggtaa01/03/0110/10/0392Genomicunknown
ss48401580APPLERA_GI|hCV9605845byFreqrev/C/Gttaccttcttcaaggcaacaaactcattctaacacagggacgcagggagagctcctcttc09/28/0511/03/06126Genomicunknown
ss69109172PERLEGEN|PGP04773583rev/C/Gttaccttcttcaaggcaacaaactcattctaacacagggacgcagggagagctcctcttc01/30/0701/30/07127Genomicunknown
ss74874062ILLUMINA|ILMN_Human_1M_rs1791634fwd/C/Ggaagaggagctctccctgcgtccctgtgttagaatgagtttgttgccttgaagaaggtaa08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1791634|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=129
 AGGTAGCCTT AAGGAGGATC TCCCAGGGAG GACTCATCGC GGGAGAAGGT TCCTGAGGAA
 TGGGGAGAAG AGTAAACTTG ACAAGTGGCT ACTCATCCAT CTCAAGTGGG TGGAGGAGCT
 AGAGTTGCCA AGACAGGGCT GGACCTGGGC ACTCCCCAGG GCATTCAGTC AGTGACAGGC
 AGAGTTGCCC CCAAAGGCCT GATGCCAAGA TCTCTTCCAA AATCCACAAG CCCGACTAAA
 GCATTTTTTC CTGCCTTTTC CATCAGATAC GAAGAGGAGC TCTCCCTGCG TCCCTGTGTT
 S
 AGAATGAGTT TGTTGCCTTG AAGAAGGTAA GGAGGAAGCT CAGAGAGGCA GAGCCCCTGA
 GCTGGCCTGC GTTGCCCCAG GCCACCTAGC CCTGAACTCA GTCCAAACGT GTCTGCAGCC
 CACCCACTCT GAAAAAGGGT TTTTCGCCCC TCAGACTCCT GTGCCAGCCC CACTAACTCT
 GAGAATGAGG AAGGCCGGCC TCCTCTCCCC CAACTTTGTC CCCTTGCAAA AGGCCAGCCA
 TTGGCCTGGC CTCCACTTCC CCACTCATGC AGGCCGAAGC TGGGTTAAAG TCATGTCTAA

  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_000012.9 AC078865
dbSNP Blast Analysis
UniGene Cluster ID
134640

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/G
 G/G
 HWP C
 G
ss2838394 CEPH 184 AF 1.000
ss48401580 HapMap-CEU European 118 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 90 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 0.017 0.983 1.000 0.008 0.992
AGI_ASP population multiple 76 IG 0.053 0.947 1.000 0.026 0.974
ss69109172 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 0.017 0.983 0.008 0.992
Concordant Genotype Total Sample C/G G/G
ss48401580 562 4
RefSNP Genotype Summary Total Individual C/G G/G
rs1791634 563 4
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
5298 ss48401580 C/C CSHL-HAPMAP HapMap-YRI NA19120 YOR060.01 r27_ch12_YRI_perlegen:genotyping_1.0.0 4567225
Genotype data submitted for563 samples from563 individualsIndividual with multiple genotypes submission:0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .