NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs2128663          
refSNP ID: rs2128663
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_007009.1:c.783+4902A>G
NT_030008.6:g.1815531T>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 ss79971204 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2128663 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
ss3052389TSC-CSHL|TSC1137058byFreqfwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag06/07/0105/17/0496Genomicunknown
ss4993711YUSUKE|IMS-JST166701fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag08/12/0210/10/03108Genomicunknown
ss5224864TSC-CSHL|TSC1149762fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag09/20/0210/10/03108Genomicunknown
ss6796744WI_SSAHASNP|NT_030008.5_1815531fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag02/12/0310/10/03111Genomicunknown
ss24415288PERLEGEN|afd4073659byFreqfwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag08/10/0409/13/04123Genomicunknown
ss44798448ABI|hCV2962949fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag07/19/0507/19/05126Genomicunknown
ss66580000ILLUMINA|HumanHap300v1.1_rs2128663fwd/TC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag11/09/0611/09/06127Genomicunknown
ss67226697ILLUMINA|HumanHap550v1.1_rs2128663fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag11/14/0611/14/06127Genomicunknown
ss67621695ILLUMINA|HumanHap650Yv1.0_rs2128663fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag11/14/0611/14/06127Genomicunknown
ss70705000ILLUMINA|HumanHap550v3.0__rs2128663rev/TA/Gcttcatgagctctcccatggaaattactctttctttacagtcagagaaatgtgatgcctt04/20/0703/30/08130Genomicunknown
ss71271595ILLUMINA|HumanHap650Yv3.0_rs2128663fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag04/23/0704/23/07127Genomicunknown
ss74940559ILLUMINA|ILMN_Human_1M_rs2128663fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag08/28/0708/29/07129Genomicunknown
ss79115583ILLUMINA|HumanHap300v2.0_rs2128663fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag04/18/0711/18/07130Genomicunknown
ss79971204HGSV|Cor18507_SNV_20070510.chr7_49830195fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag11/23/0711/24/07130Genomicunknown
ss1119742461000GENOMES|CEU.trio.12.15.2008_1760276_chr7_50023480fwd/BC/Taaggcatcacatttctctgactgtaaagaaagagtaatttccatgggagagctcatgaag12/15/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2128663|allelePos=501|totalLen=701|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TGAAGTAACA CTGTCTCTAT TTGCAGATGA CATGATAGAT TACATAGAAA ATCCTCAGTA
 ATCTGTAAAA AAACTCTATA ATTAACAAGT TAATTTAGCA AGGTGGCATG ATACAAGGAT
 AATATGAAAA TATCTGCTGA AAATTGAAAC AACTAGCAGG TGAATTTTTT AATATTCCAT
 TTAAAATAGC ATCCAAATCC CCCACAAAAA ACTTAGGAAT AAATTTAACC CAAATGAATA
 TAAGACCTTT ACACTAAAAA ATGCAAAAAG AAGATAATTT TTTTCAAATT GATATATTTA
 ATTCTGCAGA GATAAAATTA TTACATAGAA GACTGTTCCA ACCCAAGCCC TATTATTTTA
 TAATATAGTT ATTTAAATTA TTTTACAGTA TAGTTGTTAT AATGTCACTT GATGTATGAA
 GTTGAAAAAG AGAAATATAA AAACCTGCAT AATGTAACAG TGATTGAAGA AAGGCATCAC
 ATTTCTCTGA CTGTAAAGAA
 Y
 AGAGTAATTT CCATGGGAGA GCTCATGAAG GAGACCACCA TGTAATGAAG TTCTTTTGGC
 ATGTACAGAA GTTCAACATT ACACAAATAT AAATATATTG CAAATAAAAT TTCTGTCTAA
 AGCCATCAGT AGCAAATGTC TTCTTATATT TATTATTATA CTATTTCCAA TTCTAGGTAA
 TAATAGTCTA TTTTGAAAAA

  GeneView back to top
GeneView via analysis of contig annotation: ZPBP zona pellucida binding protein
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_030008->NM_007009
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_030008->NM_007009->NP_0089401815531reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2128663 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
7NW_001839006.231996349933756minusAalt_assembly_8HuRefHuRefview311
7NT_030008.6181553150023480plusTref_assemblyreferencereferenceview311
7NT_079592.25004012750090127plusTalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view311
7NW_923273.1597168250147032plusTalt_assembly_1CeleraCeleraview311

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007673.1
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss24415288AFD_EUR_PANELEuropean 48IG 0.208 0.417 0.375 0.527 0.417 0.583
AFD_AFR_PANELAfrican American 46IG 0.348 0.652 0.317 0.174 0.826
AFD_CHN_PANELAsian 48IG 0.042 0.375 0.583 1.000 0.229 0.771
ss3052389HapMap-CEUEuropean 106IG 0.208 0.321 0.472 0.025 0.368 0.632
HapMap-HCBAsian 90IG 0.022 0.244 0.733 1.000 0.144 0.856
HapMap-JPTAsian 88IG 0.091 0.273 0.636 0.150 0.227 0.773
HapMap-YRISub-Saharan African 120IG 0.233 0.767 0.317 0.117 0.883

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.353+/-0.22833226090

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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 .