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: rs2230061          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_004079.3:c.337C>T
NP_004070.3:p.Arg113Trp
NT_004487.18:g.1217894G>A
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 ss16384741 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2230061 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
ss3177154WICVAR|WI-21312byFreqfwd/BC/Tagaaatatcacatataagtcaaaccctaatggatattgcctgattctgtggactggagag06/28/0104/07/0498cDNAunknown
ss16231074CGAP-GAI|1470285rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct11/18/0311/22/03130cDNAunknown
ss16384741CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_032962.5_1217894byFreqrev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct02/17/0410/26/06130Genomicunknown
ss18136395SC_SNP|SC-CHR1_NA17109-200402.chr1.NT_032962.5_1217894rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct02/20/0403/04/04130Genomicunknown
ss24276633PERLEGEN|afd1107357byFreqrev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct08/10/0409/13/04130Genomicunknown
ss24792000SEQUENOM|sqnm104596byFreqrev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct06/18/0411/02/06130cDNAunknown
ss28503942MGC_GENOME_DIFF|BC002642x37546839-G1217894Arev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct08/25/0408/25/04130cDNAunknown
ss44071415ABI|hCV1789791byFreqrev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct07/18/0511/03/06130Genomicunknown
ss65725009ILLUMINA|Human1-rs10888390rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct10/10/0610/10/06130Genomicunknown
ss66634522ILLUMINA|HumanHap300v1.1_rs10888390rev/BA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct11/09/0611/09/06130Genomicunknown
ss66907941ILLUMINA|HumanHap550v1.1_rs10888390rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct11/14/0611/14/06130Genomicunknown
ss67035693ILLUMINA|HumanHap650Yv1.0_rs10888390rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct11/14/0611/14/06130Genomicunknown
ss68780024PERLEGEN|PGP01107357byFreqrev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct01/30/0703/31/08130Genomicunknown
ss70383683ILLUMINA|HumanHap300v2.0_rs10888390rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct04/18/0711/18/07130Genomicunknown
ss70505488ILLUMINA|HumanHap550v3.0__rs10888390fwd/BC/Tagaaatatcacatataagtcaaaccctaatggatattgcctgattctgtggactggagag04/20/0703/30/08130Genomicunknown
ss71032018ILLUMINA|HumanHap650Yv3.0_rs10888390rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct04/23/0704/23/07130Genomicunknown
ss74811109AFFY|SNP_M-185038rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct08/09/0708/09/07130Genomicunknown
ss75493503ILLUMINA|ILMN_Human_1M_rs10888390rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct08/28/0708/29/07129Genomicunknown
ss76867296CGM_KYOTO|8651rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct09/12/0709/12/07129cDNAunknown
ss85024373KRIBB_YJKIM|KHS877856rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct12/04/0712/08/07130Genomicunknown
ss1085811741000GENOMES|CEU.trio.12.15.2008_157994_chr1_148994163rev/TA/Gctctccagtccacagaatcaggcaatatccattagggtttgacttatatgtgatatttct12/15/0812/16/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2230061|allelePos=501|totalLen=838|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 ttcaccatgt tggccaggct ggtcttgaac tcctgacctc aggtgatttg cccggctcgg
 cctcccaaag tgctgggatt gcaggcgtga gccaccatgc ccagctCCCA tttttacttt
 ttatactgta ttttcactct accttttcta tgtttagata tatttagata cacaagtact
 tcatattgtt ctacaattgc ctacaacctt cagtacagta ccatgccgtg caggtttgta
 gtttaggagc aatgggccct accatacagc ctaggtatgt aggagccaat acgctctagg
 tttgtgtaag tacacactat ggtgttttca caatgacaaa atcacctaac gatgcatttc
 tcagaacata ttccagtcat taaacaatgc ctgactgTAT ATTTGCTTTG TAGACCAGTG
 AAGAAGTGAT GTCTTTGATG AGTTCCCTGA GAGTTCCCAG CCAGTGGCAG AGAAATATCA
 CATATAAGTC AAACCCTAAT
 Y
 GGATATTGCC TGATTCTGTG GACTGGAGAG AGAAAGGGTG TGTTACTGAA GTGAAATATC
 AAGTGAGTAT TACCATCCCA AGCCTCTGAA CCCTAGGTAG AGCTCTTTAA ATGCTTAGTC
 TAGCTACAGA ATTTGACAGT GAATCTTACA GTCCCACGTG TTACTTTCTA GTTATTTTTG
 TTATTCTTGT CTTCCCAACT AAATTATAAG TTCCTTAAGG GCAAGGATCA CATATTATAT
 TTTATTTATA cagttggccc tccatatcca cagcttccac atctgcagat tccaccaacc
 gtggatcaaa aatatccaga aaaaaaTGAA AATAAAA

  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
dbSTS GenBank
sqnm104596 NT_032962 BC002642 BQ710837
dbSNP Blast Analysis
UniGene Cluster ID
181301

  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
 N
 T
ss16384741 HapMap-CEU European 120 IG 0.450 0.450 0.100 1.000 0.675 0.325
HapMap-HCB Asian 90 IG 0.311 0.578 0.111 0.200 0.600 0.400
HapMap-JPT Asian 88 IG 0.432 0.409 0.159 0.479 0.636 0.364
HapMap-YRI Sub-Saharan African 120 IG 0.517 0.450 0.033 0.200 0.742 0.258
CHMJ Asian 74 IG 0.635 0.014 0.351
ss24276633 AFD_EUR_PANEL European 46 IG 0.261 0.652 0.087 0.100 0.587 0.413
AFD_AFR_PANEL African American 40 IG 0.400 0.450 0.150 1.000 0.625 0.375
AFD_CHN_PANEL Asian 48 IG 0.500 0.375 0.125 0.584 0.688 0.312
ss24792000 CEPH 184 AF 0.580 0.420
ss3177154 MITOGPOP6 multiple 46 IG 0.435 0.348 0.217 0.200 0.609 0.391
ss44071415 AoD_African_American 90 AF 0.650 0.350
AoD_Caucasian 92 AF 0.590 0.410
AoD_Chinese 90 AF 0.580 0.420
AoD_Japanese 90 AF 0.530 0.470
ss68780024 HapMap-CEU European 120 GF 0.450 0.450 0.100 0.675 0.325
HapMap-HCB Asian 90 GF 0.311 0.578 0.111 0.600 0.400
HapMap-JPT Asian 90 GF 0.422 0.400 0.178 0.622 0.378
HapMap-YRI Sub-Saharan African 120 GF 0.517 0.450 0.033 0.742 0.258

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.448+/-0.153 1263 1052 276 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
 UNKNOWN YES YES

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 .