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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs220049          
refSNP ID: rs220049
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/T
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_030751.3:c.259+6791T>A
NT_008705.15:g.13732282T>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 ss1956451 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs220049 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
ss286183KWOK|OVLP-000621-247188rev/BA/Tctggttcagggtaagagggctagccctgggtttcattccagcagatggccatgaggccca06/30/0010/10/0379Genomic97 %
ss290222KWOK|OVLP-000621-268334rev/BA/Tctggttcagggtaagagggctagccctgggtttcattccagcagatggccatgaggccca06/30/0010/10/0385Genomic97 %
ss1042097KWOK|OVLP-000804-564054fwd/TA/Ttgggcctcatggccatctgctggaatgaaacccagggctagccctcttaccctgaaccag09/02/0010/10/0386Genomic97 %
ss1042169KWOK|OVLP-000804-565858rev/BA/Tctggttcagggtaagagggctagccctgggtttcattccagcagatggccatgaggccca09/02/0010/10/0386Genomic97 %
ss1042760KWOK|OVLP-000804-571983fwd/TA/Ttgggcctcatggccatctgctggaatgaaacccagggctagccctcttaccctgaaccag09/02/0010/10/0386Genomic97 %
ss1043116KWOK|OVLP-000804-577279rev/BA/Tctggttcagggtaagagggctagccctgggtttcattccagcagatggccatgaggccca09/02/0010/10/0386Genomic97 %
ss1956451KWOK|OVLP-000925-412386fwd/TA/Ttgggcctcatggccatctgctggaatgaaacccagggctagccctcttaccctgaaccag10/06/0010/10/0392Genomic97 %
ss2615523SC_JCM|AL355148.8_85801fwd/TA/Ttgggcctcatggccatctgctggaatgaaacccagggctagccctcttaccctgaaccag11/03/0010/10/0389Genomicunknown
ss12093010WI_SSAHASNP|chr10.NT_008705.14_13732282fwd/TA/Ttgggcctcatggccatctgctggaatgaaacccagggctagccctcttaccctgaaccag07/04/0310/10/03116Genomicunknown
ss12966696SC_SNP|NT_008705.14_13732282fwd/TA/Ttgggcctcatggccatctgctggaatgaaacccagggctagccctcttaccctgaaccag10/22/0310/31/03119Genomicunknown
ss19887547CSHL-HAPMAP|CSHL-HuFF-200402.chr10.NT_008705.15_13732282fwd/TA/Ttgggcctcatggccatctgctggaatgaaacccagggctagccctcttaccctgaaccag02/21/0403/04/04120Genomicunknown
ss38613781ABI|hCV2648202fwd/A/Ttgggcctcatggccatctgctggaatgaaacccagggctagccctcttaccctgaaccag07/15/0507/15/05126Genomicunknown
ss85522827HGSV|Cor19129_SNV_20070510.chr10_31796963fwd/A/Ttgggcctcatggccatctgctggaatgaaacccagggctagccctcttaccctgaaccag12/06/0712/09/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs220049|allelePos=279|totalLen=5279|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=130
 CAGGGAAGAG TGTGGTGTGG GTTTTTCAGG TGATACAGAA GCTGGGCACC CCTCCCTTCA
 TGAGAATAGA CTAGGAAGGG TATAGCCTCA TAGCCTTGCT TTCTGCTGCA GGGAGTCTTG
 CATTCTGGAA TGCCTGGGAT GGCATGGCAG TCTGGGCACA GGTGGTTTGG GATTTGCATA
 ACTAATTGGG CCGGCTGCCA GGGTGGACAC TGGAGGGAGA CCCACCAGTC AGGGGTGTAG
 AAGCTGAGTG GGCCTCATGG CCATCTGCTG GAATGAAA
 W
 CCCAGGGCTA GCCCTCTTAC CCTGAACCAG CTCTTGTGGC ACAGAAGAGG TGCCTGCACC
 CCTCCCTAGA GTGTTGTTCC AGCTGCCTGA GAACTGCCCC TACAGCCCTA CCAAGGTCAC
 GTCTGCCTCA GAGAGCCTGA TCACGGGCTC ACCAGACCCA GTCCCACCCA GCTTTGCCCC
 CTCTAGCCAG CCTTGGGAGC AGAGCATGGG ATGGGACCAC TGAGAGCTCC ACACCCCCCA
 CCCATCACCA AGAACACTCT TGTATTCCTT ATCAACAAAG GCCAAGTAAA AATCCCACTG
 TCATCACTGC AGCTGCCTCT CACCTGCCAG CATCACCTAC TGGCCAGGAG GTCAAAACTG
 CATGTCCTGT CGCAGCAACT GTTGATATCA TTGCACAGCA CTCAGACagc tcttacctgc
 aggcatcacc tgctggcctg tagggtgaac tgcacaaccc aatataattc ctgctgacaa
 gtacacagct ctaaggaatg aggtaagttt cccccaaaag acctccaact ttgcatctct
 ataggagaca gtgagcctta ccacatatac agcataccac tactacaaac tacaaacaat
 taacatttga gaaaacaact acactaaggc tatctgtaac caaggaattt atacagagcc
 ttggccccct aaaagcacgt agaagcaaag ccaaaggaca caacccaaca tatgcaagag
 tcacaccctc aaggggcaac gaaaaataat cccacccaaa tgaagataaa tccaaaaata
 ataagtgcca gcttctacac atgagaagga accagcacaa gagctccaac accaggaaga
 aatagaatgt tgtgacaccc ctaaaggacc acattagctc tctagcaatg aatcttaatg
 aaaatgaaaa ctttgaaatg acagataaag aatttaagat atggactgtt aagaagccta
 gtgagataca agagaaagtt gaaaaccaaa gcaactagag aaacaatcta agagatgaaa
 gacaacatag atatattttt taaaaaacaa atggaatatc tgaaaatgat aaatttgctg
 aaggaacttc aaaacactgt tgaaagcctt aacaatagac tagacaaacc agaagaaaga
 tttcagagct tgacgactag tctttcaaat taacccaatc agaaaatggc cgaataggaa
 cagctccggt ctacagctcc cagcgtgagc gacgcagaag acgggtgatt tctgcatttc
 catctgaggt accgggttca tctcactagg gagtgccaga gagtgggcac aggtcagtgg
 gtgcgcgcac catgcgtgag ccgaagcagg gtgaggcatt gcctcactcg ggaagcgcaa
 ggggtcaggg agttcccttt cctagtcaaa gaaaggggtg acagacggca cctggaaaat
 cgggtcactc ccacccgaat attgcgcttt tctgacgggc ttaaaaaacg gcacaccacg
 agattatatc ccgcacctgg ctcagagggt cctacgccca cggagtctcg ctgattgcta
 gcacagcagt ctgagatcaa actgcaaggc agcagcgagg ctgggggagg ggcgcccgcc
 attgcccagg cttccttagg taaacaaagc agcccagaag ctggaactgg gtgaagccca
 ccacagctca aggaggcctg cctgcctctg taggctccac ctctgggggc agggcacaga
 caaacaaaaa gacagcagta acctctgcag acttaaatgt ccctgtctga cagctttgaa
 gagagcagtg gttctcccag tacgcagctg gagatctgag aacgggtaga ctgcctcctc
 aagtgggtcc ctgaccccta acccccgagc agcctaactg ggaggcaccc cccagcaggg
 gcacactgac acctcacacg gcagggtact ccaacagacc tacagctgag ggtcctgtct
 gttagaagga aaactaacaa acagaaagga catccacacc aaaaacccat ctgtacatca
 ccatcatcaa agaccaaaag tagataaaac cacaaagatg gggaaaaaac agaacagaaa
 aagtggaaac tctaaaaagc agagcgcctc tcctcctcca aaggaacgca attcctcacc
 agcaatggaa caaagctgga cggagaacga ctttgacgag ctgagagaag aaggcttcag
 acgatcaaat tactctgagc tacgggagga cattcaaacc aaaggcaaag aagttgaaaa
 ctttgaaaaa aatttagaag aatgtataac tagaataacc aatacagaga agtgcttaaa
 ggagctgatg gagctgaaaa ccaaggctcg agaactacgt gaagaatgca gaagcctcag
 gagccaatgc gatcaactgg aagaaagggt atcagcgatg gaagatgaaa tgaatgaaat
 gaagcgagaa gggaagttta gagaaaaaag aataaaaaga aatgagcaaa gcctccaaga
 aatatgggac tatgtgaaaa gaccaaatct acatctgatt ggtgtacctg aaagtgatgg
 ggagaatgga accaagttgg aaaacactct gcaggatatt atccaggaga acttccccaa
 tctagcaagg caggccaaca ttcagattca ggaaatacag agaatgccac aaagatactc
 ctcgagaaga gcaactccaa gacacataat tgtcagattc accaaagttg aaatgaagga
 aaaaatgtta agggcagcca gagagaaagg tcaggttacc ctcaaaggga agcccatcag
 actaacagcg gatctctcgg cagaaaccct acaagccaga agagagtggg ggccaatatt
 caacattctt aaagaaaaga attttcaacc cagaatttca tatccagcca aactaagctt
 cataagtgaa ggagaaataa aatcctttac acacaagcaa atgctgagag attttgtcac
 cagcaggcct gccctaaaag agctcctgaa ggaagcacta aacatggaaa ggaacaaccg
 gtaccagccg ctgcaaaatc atgccaaaat gtaaagacca tcgagactag gaagaaactg
 catgaactaa cgagcaaaat cacctgctaa catcataatg acaggatcaa attcacacat
 aacaatatta actttaaatg taaatggact aaattctcca attaaaagac acagactggc
 aaattggata aagagtcaag acccatcagt gtgctgtatt caggaaaccc atctcacgtg
 cagagacaca cataggctca aaataaaagg atggaggaag atctaccaag caaatggaaa
 attaaaaaag gcaggggttg caatcctagt ctctgataaa acagacctta aaccaataaa
 gatcaaaaga gacgaaggcc attacataat ggtaaaggga tcaattcaac aagaagagct
 aactatccta aatatatatg cacccaatac aggagcaccc agattcataa agcaagtcct
 gagtgaccta caaagagact tagactccca cacattaata atgggagact ttaacacccc
 actgtcaaca ttagacagat caacgagaca gaaggtcaac aaggataccc aggaattgaa
 ctcagctctg caccaagcag acctaataga catctacaga actctccacc ccaaatcaac
 agaatataca tttttttcag caccacacca cacctattcc aaaattgacc acatacttgg
 aagtaaagct ctcctcagca aatgtaaaag aacagaaatt gtaacaaact atctctcaga
 ccacagtgca atcaaactag aactcaggat taagaatctc actcaaaacc actcaactac
 atggaaactg aacaacctgc tcctgaatga ctactgggta cctaacgaaa tgaaggcaga
 aataaagatg ttctttgaaa ccaacgagaa caaagacaca acataccaga atctctggga
 cacattcaaa gcagtgtgta gagggaaatt tatagcacta aatgcccaca agagaaagca
 ggaaagaccc aaaattgaca ccctaacatc acaattaaaa gaactagaaa agcaagagca
 aacacattca aaagctagca gaaggcaaga aataactaaa atcagagcag aactgaagga
 aatagagaca caaaaaaccc ttcaaaaaat taattaatcc cagagctggt tttttgaaag
 ggtcaagaaa atagatagac cactagcaag actaataaaa aaagagagaa gaatcaaata
 gatgcaataa aaaatgataa aggggatatc accaccgatc ccacagaaat acaaactacc
 atcagagaat actacaaata cctctatgca aataaagtag aaaatctaga agaaatggat
 acattcctcg acacatacac tctcccaaga ctaaaccagg aagaagttga atctctgaat
 agaccaataa caggatctga aattgtggca ataatcaata gtttaccaac caaaaagagt
 ccaggaccag atggattcac agccgaattc taccagaggt acaaggagga actggtacca
 ttccttctga aactattcca atcaatagaa aaagagggaa tcctccctaa ctcattttat
 gaggccagca tcattctgat accaaagcct ggcagagaca caaccaaaaa agagaatttt
 agaccaatat ccttgatgaa cattgatgca aaaatcctca gtaaaatact ggcaaaccga
 atccagcagc acatcaaaaa gcttatccac catgatcaag tgggcttcat ccctgggatg
 caaggctggt tcaatatacc caaatcaata aatgtaatcc agcatataaa cagagccaaa
 gacaaaaacc acatgattat ctcaatagat gcagaaaagg cctttgacaa aattcaacaa
 cccttcatgc taaaaactct

  GeneView back to top
GeneView via analysis of contig annotation: ZEB1 zinc finger E-box binding homeobox 1
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_008705->NM_030751
function
HuRefNW_001837932->NM_030751
function
CeleraNW_924584->NM_030751
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_008705->NM_030751->NP_11037813732282forwardintron
HuRefNW_001837932->NM_030751->NP_1103786928234reverseintron
CeleraNW_924584->NM_030751->NP_11037831522178forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs220049 maps exactly once on NCBI human chromosome 10
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
10NW_001837932.2692823431477191minusAalt_assembly_8HuRefHuRefview278
10NW_924584.13152217831522178plusTalt_assembly_1CeleraCeleraview278
10NT_008705.151373228231796963plusTref_assemblyreferencereferenceview278

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008705 AF225898 AL158080.10 AL158080.12 AL355148.6
dbSNP Blast Analysis
GenBank HTGS Finished:
AL158080.21

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .