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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs10775648          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/130
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_014586.1:c.1771C>T
NP_055401.1:p.Arg591Cys
NT_011512.10:g.19032994C>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 ss41477859 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10775648 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
ss16909106CSHL-HAPMAP|CSHL-HuAA-200402.chr21.NT_011512.9_19031520fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc02/17/0403/04/04120Genomicunknown
ss18309298SC_SNP|SC-CHR1_NA07340-200402.chr21.NT_011512.9_19031520fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc02/20/0403/04/04120Genomicunknown
ss18806612SC_SNP|SC-CHR9-12_NA17119-200402.chr21.NT_011512.9_19031520fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc02/20/0403/04/04120Genomicunknown
ss20133081CSHL-HAPMAP|CSHL-HuFF-200402.chr21.NT_011512.9_19031520fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc02/21/0403/04/04120Genomicunknown
ss41477859ABI|hCV3271206byFreqfwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc07/17/0511/03/06126Genomicunknown
ss48533874CANCER-GENOME|NC_000021.7_32292994fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc10/20/0511/29/05126Genomicunknown
ss65724880ILLUMINA|Human1-rs10775648fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc10/10/0610/10/06127Genomicunknown
ss66601914ILLUMINA|HumanHap300v1.1_rs10775648fwd/TC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc11/09/0611/09/06127Genomicunknown
ss66899033ILLUMINA|HumanHap550v1.1_rs10775648fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc11/14/0611/14/06127Genomicunknown
ss67015291ILLUMINA|HumanHap650Yv1.0_rs10775648fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc11/14/0611/14/06127Genomicunknown
ss69252346PERLEGEN|PGP00064598byFreqfwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc01/30/0703/31/08127Genomicunknown
ss70379013ILLUMINA|HumanHap300v2.0_rs10775648fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc04/18/0711/18/07127Genomicunknown
ss70496424ILLUMINA|HumanHap550v3.0__rs10775648fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc04/20/0703/30/08130Genomicunknown
ss71021688ILLUMINA|HumanHap650Yv3.0_rs10775648fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc04/23/0704/23/07127Genomicunknown
ss75437076ILLUMINA|ILMN_Human_1M_rs10775648fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc08/28/0708/29/07129Genomicunknown
ss80740937KRIBB_YJKIM|KHS1018208fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc11/26/0711/26/07130Genomicunknown
ss81084809HGSV|Cor18555_SNV_20070510.chr21_32292994fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc11/27/0711/27/07130Genomicunknown
ss84994720KRIBB_YJKIM|KHS869374fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc12/04/0712/08/07130Genomicunknown
ss86270905CORNELL|hCV3271206fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc01/21/0801/21/08129Genomicunknown
ss1124350181000GENOMES|CEU.trio.12.15.2008_3757147_chr21_32292994fwd/BC/Taggattctgaactccccggtcagcttggctgcagaaattccagcgagaggacgctgtccc12/15/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10775648|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CTTTCTTGGT GTGCAGATTC CTTTGGCTGC CGCAATATTT TCCGCAAAAC CTCAGATTCC
 AATTGTGTGG CTTCTTCTTC CATGGAGTTC ATCCCCGTGC CACCGCCCAG GACCCCGAGG
 ATTGTGAAGA AACCGGAGCC CCATCAGCCA GGGCCCGGAA GCACTGGCAT CCCCCACAAG
 GAAGACCCCC TGATGCTGGA CATGGTGCGC TCCTTCGAGT CTGTGGATCG CGACGACCAC
 GTAGAAGTGC TGTCTCCCTC TCATCACTAC AGGATTCTGA ACTCCCCGGT CAGCTTGGCT
 Y
 GCAGAAATTC CAGCGAGAGG ACGCTGTCCC CGGGTCTGCC ATCCGGAAGC ATGTCGCCTC
 TCCATACTCC TTTGCATCCA ACTCTGGTCT CTTTTGCTCA CGAAGATAAG AACAGCCCCC
 CAAAAGAGGA GGGCCTGTGT TGCCCACCTC CGGTTCCCAG CAATGGCCCC ATGCAGCCTC
 TGGGGAGCCC CAATTGTGTG AAAAGCCGAG GCCGGTTCCC TATGATGGGC ATCGGACAGA
 TGTTAAGGAA GCGCCATCAG AGTCTGCAGC CATCTGCAGA TAGGCCCCTG GAGGCCAGCC

  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
NT_011512
dbSNP Blast Analysis
UniGene Cluster ID
109437

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss41477859 HapMap-CEU European 120 IG 0.617 0.333 0.050 0.783 0.217
HapMap-HCB Asian 90 IG 0.444 0.467 0.089 1.000 0.678 0.322
HapMap-JPT Asian 90 IG 0.333 0.622 0.044 0.150 0.644 0.356
HapMap-YRI Sub-Saharan African 120 IG 0.867 0.133 0.933 0.067
ss69252346 HapMap-CEU European 120 GF 0.617 0.333 0.050 0.783 0.217
HapMap-HCB Asian 90 GF 0.444 0.467 0.089 0.678 0.322
HapMap-JPT Asian 90 GF 0.333 0.622 0.044 0.644 0.356
HapMap-YRI Sub-Saharan African 120 GF 0.867 0.133 0.933 0.067
ss80740937 KHP1 180 AF 0.639 0.361

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.350+/-0.229 1297 1002 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .