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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs814628          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_004190.2:c.481A>G
NP_004181.1:p.Thr161Ala
NT_030059.12:g.9178168A>G
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 ss1764627 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs814628 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
ss1070320KWOK|OVLP-000804-9525fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc09/02/0010/10/0386Genomic99 %
ss1764627KWOK|OVLP-000925-104168byFreqfwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc10/05/0005/16/0489Genomic99 %
ss2241727TSC-CSHL|TSC0644761fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc10/20/0010/10/0388Genomic95 %
ss2476449SC_JCM|AC011277.4_112397fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc11/03/0010/10/0389Genomicunknown
ss3211601YUSUKE|IMS-JST071685byFreqrev/BC/Tggccaacatagtgtagctgcttctgtccagtttctttacaatgaagtcgattgtggctgg09/05/0110/10/03100Genomicunknown
ss20728171SSAHASNP|WGSA-200403-chr10.chr10.NT_030059.11_9178168fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc03/18/0403/19/04121Genomicunknown
ss24081117PERLEGEN|afd2283652byFreqfwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc08/10/0409/13/04123Genomicunknown
ss24735081EGP_SNPS|LIPF-006552byFreqfwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc05/24/0408/05/04126Genomicunknown
ss38537768ABI|hCV2073562byFreqfwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc07/15/0511/02/06126Genomicunknown
ss48419972APPLERA_GI|hCV2073562byFreqrev/BC/Tggccaacatagtgtagctgcttctgtccagtttctttacaatgaagtcgattgtggctgg09/28/0511/03/06126Genomicunknown
ss65729787ILLUMINA|Human1-rs814628fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc10/10/0610/10/06127Genomicunknown
ss66661274ILLUMINA|HumanHap300v1.1_rs814628fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc11/09/0611/09/06127Genomicunknown
ss67875132ILLUMINA|HumanHap550v1.1_rs814628fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc11/14/0611/14/06127Genomicunknown
ss68018629ILLUMINA|HumanHap650Yv1.0_rs814628fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc11/14/0611/15/06127Genomicunknown
ss69086906PERLEGEN|PGP02283652byFreqfwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc01/30/0708/14/07127Genomicunknown
ss70972199ILLUMINA|HumanHap550v3.0__rs814628fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc04/20/0703/31/08130Genomicunknown
ss71583260ILLUMINA|HumanHap650Yv3.0_rs814628fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc04/23/0704/23/07127Genomicunknown
ss74810029AFFY|SNP_M-183229fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc08/09/0708/09/07128Genomicunknown
ss75534940ILLUMINA|ILMN_Human_1M_rs814628fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc08/28/0708/29/07129Genomicunknown
ss76891378SI_EXO|NT_030059.12_9178168fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc09/20/0709/20/07129Genomicunknown
ss79282431ILLUMINA|HumanHap300v2.0_rs814628fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc04/18/0711/18/07130Genomicunknown
ss83570070KRIBB_YJKIM|KHS492184fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc12/04/0712/05/07130Genomicunknown
ss97671987HUMANGENOME_JCVI|1103694016402fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc03/29/0803/29/08130Genomicunknown
ss1096376231000GENOMES|CEU.trio.12.15.2008_2400994_chr10_90419632fwd/TA/Gccagccacaatcgacttcattgtaaagaaactggacagaagcagctacactatgttggcc12/15/0812/16/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs814628|allelePos=201|totalLen=1331|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CATCCACTGA TGGTCTATAA GCATCAATGT TTAGAGAATC CAGTTTTCTG TATCCCAAAG
 GGATCATTAG CTATAAATGC TTGAATTTTA GAAACAATAG CAAGGAAATG TATTCACTTT
 CATTTTGTCT TTTTCCTTTC AGCTTTGATG AAATGGCTAA ATATGACCTT CCAGCCACAA
 TCGACTTCAT TGTAAAGAAA
 R
 CTGGACAGAA GCAGCTACAC TATGTTGGCC ATTCCCAGGG CACCACCATT GGTAAGTAAT
 GGCAGTCAAG GCCAAGTGGT TTACTTCTCA TAAACACTTT CCCAGTGGTT ATGGTAGGCA
 TGTTAGCAAC CACACTAATT GCTTTCCATT CATTTAATGC CTCCAACAAC ACAATGACAT
 AGGGACAATT ATAATTCCTA TTATATGGGA AAACAAAACA AGGGGATACA GTTCGTGCAA
 GGTTACATGG ATTATTACCA ATAGGGTagc tcaggcagtc tgactcccaa gcacatactc
 tgaagcatta taccatacAG CCACTGACCT AAGTTTATTC TATTCATTTG ACCATATTTA
 TGGGGCAGGC TCCTATGATG TATCAAAAga atacagaaat aaataaaata gatgaaaact
 tctgcctttg taccatttat actctagaga taggaggcaG AGAAAATAAA AAAGGTTAAA
 AAGTAAAATG TAATATATTT TAGATAATGC TAAAGCTATG GAGAGAAAAT AACCCAGGGA
 ATTACATTAG AGAGCACCAG AGGGGTTCAC AGAAATTGTA GATTGGTAAC ACAAGCACTC
 tttgggtaaa gtcatgatga aggtcagaga gtgagtcatg tgcctaccta gtaggcatca
 gatgttccag gaagacagaa tagcaagtga gaagaatctg aagctggagc acacctagtt
 tgttcaagga acagcagtga ggctatgcct tgtgtggatg aatcaaattg agaaagagac
 agagagagtg agagatgaga tcacagatgt tggggaggaa agactgttcg gggctctttg
 gctgttgtag ggattttagc tttcactctg ataaaaaaag aaaactgcag aataattttg
 aatcgaagag ttacatgatt cataacagga tcccttttgt tgcCAGGGGC AAAGAGCCAG
 GAGCAGAGAA CCAATTAGAG GACTCTTATA GTACCCATGC AGGAGATGGT GGTGACCTGG
 ATGAAGGGTG TTCTTGGAAA AACCATTCTT CCACAAATAG AACCAGACTA CATATTATAT
 AGTTGTCTAT ATCTGAAAGG GTTTTTTTTA GGCCATTCTT GAGTATCATC

  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_030059.12 ABBA01021954 AL358532 AL358532.3 AL358532.7
dbSNP Blast Analysis
UniGene Cluster ID
523130

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss1764627 CEPH 184 AF 0.850 0.150
HapMap-CEU European 120 IG 0.733 0.250 0.017 1.000 0.858 0.142
HapMap-HCB Asian 90 IG 0.578 0.378 0.044 0.752 0.767 0.233
HapMap-JPT Asian 88 IG 0.341 0.568 0.091 0.200 0.625 0.375
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
CHMJ Asian 74 IG 0.649 0.351
ss24081117 AFD_EUR_PANEL European 48 IG 0.667 0.333 0.343 0.833 0.167
AFD_AFR_PANEL African American 46 IG 0.870 0.087 0.043 0.050 0.913 0.087
AFD_CHN_PANEL Asian 48 IG 0.583 0.333 0.083 0.655 0.750 0.250
ss24735081 PDR90 Global 178 IG 0.652 0.292 0.056 0.403 0.798 0.202
ss3211601 JBIC-allele 1298 AF 0.693 0.307
ss38537768 AoD_African_American 90 AF 0.940 0.060
AoD_Caucasian 92 AF 0.780 0.220
AoD_Chinese 90 AF 0.590 0.410
AoD_Japanese 90 AF 0.660 0.340
ss48419972 AGI_ASP population multiple 74 IG 0.784 0.216 0.479 0.892 0.108
ss69086906 HapMap-CEU European 120 GF 0.733 0.250 0.017 0.858 0.142
HapMap-HCB Asian 90 GF 0.578 0.378 0.044 0.767 0.233
HapMap-JPT Asian 90 GF 0.333 0.578 0.089 0.622 0.378
HapMap-YRI Sub-Saharan African 120 GF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.284+/-0.248 1391 1179 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
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .