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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs214710          
refSNP ID: rs214710
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_138371.1:c.-58+6369A>G
NT_029419.11:g.9760147A>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 ss1800226 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs214710 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
ss280120KWOK|OVLP-000621-213133fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct06/30/0010/10/0379Genomic97 %
ss1146965KWOK|OVLP-000804-441355rev/BC/Taggtctttctcaaggcccactgaagggctctttcttctcttcttcaacattcttatcctc09/02/0010/10/0386Genomic99 %
ss1242450KWOK|OVLP-000804-445398fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct09/02/0010/10/0386Genomic97 %
ss1800226KWOK|OVLP-000925-633171byFreqrev/BC/Taggtctttctcaaggcccactgaagggctctttcttctcttcttcaacattcttatcctc10/05/0010/25/0687Genomic99 %
ss1839855KWOK|OVLP-000925-634983fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct10/05/0010/10/0387Genomic97 %
ss3538285SC_JCM|AC004242.1_2067fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct09/24/0110/10/03100Genomicunknown
ss11041714BCM_SSAHASNP|chr12.NT_029419.10_9760147fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct07/01/0310/10/03116Genomicunknown
ss20919879SSAHASNP|WGSA-200403-chr12.chr12.NT_029419.10_9760147fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct03/19/0403/19/04121Genomicunknown
ss38889265ABI|hCV2403588fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct07/16/0507/16/05126Genomicunknown
ss67228181ILLUMINA|HumanHap550v1.1_rs214710fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct11/14/0611/14/06127Genomicunknown
ss67623351ILLUMINA|HumanHap650Yv1.0_rs214710fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct11/14/0611/14/06127Genomicunknown
ss68197472ILLUMINA|HumanHap250Sv1.0_rs214710fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct12/06/0612/07/06127Genomicunknown
ss69108316PERLEGEN|PGP02037157byFreqfwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct01/30/0708/14/07127Genomicunknown
ss70706496ILLUMINA|HumanHap550v3.0__rs214710fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct04/20/0703/30/08130Genomicunknown
ss71273262ILLUMINA|HumanHap650Yv3.0_rs214710fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct04/23/0704/23/07127Genomicunknown
ss74940709ILLUMINA|ILMN_Human_1M_rs214710fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct08/28/0708/29/07129Genomicunknown
ss83388929KRIBB_YJKIM|KHS449894fwd/TA/Ggaggataagaatgttgaagaagagaagaaagagcccttcagtgggccttgagaaagacct12/04/0712/04/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs214710|allelePos=1338|totalLen=2370|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 ACATTTAGGG AGACTGTTCA AAGGTCACAA GACAATTATT TGAGAAATTC AGCCACAGTT
 TGATGGGAAG ATAAATGAGT GTCTAGAGAA GTGGGAAGTg gctgggcatg gtggcttatg
 gctgtaatcc cagcactttg ggaggccaag gcaggaggtt tacttgaaac caggagttca
 agaccagact gggccacaaa gcaagagcct gtctccacaa aaaattttaa aaaattagct
 gggcatggga tgcacacttg tggtcccaac tacttggcag gctgaggcag aaggatctct
 taaacctggg agataaaggc tgcagtgagc catgatcgca ccatggcact ccagcctggg
 tgacagagtg agactctatc tcttaaaaaa aaaattaaaa aaaaaaaaaa aaaaaaCGCc
 cgggcgtggt ggctcacgcc tgtaatccca gcactttggg aggccgagga gggtggatca
 cctgaggtca ggagttcgag accagcctga ccaacatgga gaatccccgt ctctactaaa
 aatacaaaaa aattagccgg gcgtggtagc acgtgcctgt aattccagct acttgggagg
 ctgaggcagg agaatcgctt gaacctggga ggcagatgtt gcggtgagct gagatcacgc
 cattgcactc cagcctgggc aacaagagca aaactccatc tcaaaaaaaa aaaaaaaaaa
 aaaaGAGAGA GAATTGGGAA GTGATAGGGG CCTGCATAGA CTGCTTTTCC TACCTCCTAC
 CCCTCCAACC CCAGATAACT TTATTCTCTC TACCtgaata tgtctgaaac tcaggagaca
 ggtctgggct agagacaaag ataatagcta cattcactga gcacttagaa atgtggcggt
 gtcatgctaa taactttaca tgtgttcatt taaccctcac ttgttaggaa aactgcagta
 atattgttcc cattttattg atgaggtttc ttcagggcag aggggttgct taataggccc
 agggactcaa gggctagtaa gcagtggagc aggatcaaac ccagggggcc aaccccagag
 cccctccctc tcagccagtg tgctttattg CCCCAATTCT CAGTCATCTG CATACAAATG
 GGAATTGATA AGGGGATGGT CCGTTGTAAC CATCCAAACC AGGACTCTTA AGGGTTTGGG
 GTGCTACTAA TCATTCTGGG GAAACAGGCA GAAACCAGAA CTGTTTGGGG CAAATAGGGA
 CATAGGGTTA CCTCATTTCC TGACACTCTG AAAATGGGTG GACACACGAG GATAAGAATG
 TTGAAGAAGA GAAGAAA
 R
 GAGCCCTTCA GTGGGCCTTG AGAAAGACCT GGAagggagg gagaaataag aaaaagagag
 agagagagag aaagaCCAAC ATTTGGGGAA CTGCCAGAGA AAGAGAAACC CTCAAAAGAT
 ACTAGGGAAA GACAGGATAC AAGGGTGTCA CAAATACGTG GACTTGAGGG CTGGGTTTCT
 CAGAGGGAGC AGTCAGTAGT GCCCCTACCC CTCATACTGT AAGAACCAAA AAGTGGCCAC
 TGAAAGGAGC AACAGGGAAA TCATCGGTGA TTTACTAACA AACATTCCTT GGCTTTGATC
 CAGTCAGAGC CAAATTAAAG TAAACGGAGG AGTGAGTGGG AGGTGGGGCC CAGACCCAGA
 CCCAGTCAGT GCAAGCAAGT TTTTTTTTTT AAATGTGGCC TTGGAGTGGA GGCAAAAGAT
 AGGACTGTCC TGGAGGTGGA GTCAAAGATG TTTCCTTTCT TTTTCAAAGC AAGAAACTAG
 AATGTGTTTA ATGCTAAAAA GAAGGATCCA GGCCAAGGAG GGTAAAGAAA ATGCAGAATG
 CAAATTATCC CCTCACTGGG GGATATCCGG GAGCGAAGTC CCTGAGCTGC TGAGGAAGCT
 TTACGCCTAA GGAGGTACCT CTCTGCCTTT GCAGGAGGGT GGGAAGCGGG GTGAGGATTT
 GAAGGTTTGA GGAGGGAGTC CAAACAGGGT TCTGTCTGCA GGCCTGTGTT TTCTCTGGAA
 TCATTGTGGG AGGGCTTGCT GAGCCAAAGG ATTAGAGGGg cctactgtct ggcaggcctt
 gtattattag gcccctgatg tacgagatct cttttcattt tcactattat ttgacgaggt
 aggtaatatt attccctttt tacagaagag gaaactggtt cagaactgtg ggcagccagc
 ccaagagcac gcagctgtcc aggggcagag tcCACGTCTG GCTTCTTTGT CTGGAGTTGA
 AAGCCAGATC ACCACCTTCT GGTATCTTTC ATTTGTGTTA AAGGGGTAAT AGGTAGGAAG
 TTAGCAAATA TA

  GeneView back to top
GeneView via analysis of contig annotation: FAM113B family with sequence similarity 113, member B
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_029419->NM_138371
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_029419->NM_138371->NP_6123809760147forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs214710 maps exactly once on NCBI human chromosome 12
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
12NW_001838057.1707993644647665plusGalt_assembly_8HuRefHuRefview1337
12NT_029419.11976014745903108plusAref_assemblyreferencereferenceview1337
12NW_925351.1995979246413886plusGalt_assembly_1CeleraCeleraview1337

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_029419 AC008083 AC008083.16 AC008083.17 AC073309 AC073309.1
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1800226HapMap-CEUEuropean 118IG 0.424 0.441 0.136 1.000 0.644 0.356
HapMap-HCBAsian 88IG 0.432 0.523 0.045 0.150 0.693 0.307
HapMap-JPTAsian 84IG 0.571 0.381 0.048 0.752 0.762 0.238
HapMap-YRISub-Saharan African 116IG 0.017 0.103 0.879 0.150 0.069 0.931
ss69108316HapMap-CEUEuropean 120GF 0.433 0.433 0.133 0.650 0.350
HapMap-HCBAsian 90GF 0.422 0.533 0.044 0.689 0.311
HapMap-JPTAsian 90GF 0.578 0.356 0.067 0.756 0.244
HapMap-YRISub-Saharan African 120GF 0.017 0.100 0.883 0.067 0.933

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.500+/-0.0152702102700

  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

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Revised: May 25, 2006 1:38 PM .