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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs197155          
refSNP ID: rs197155
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_015015.1:c.-109+14048C>T
NT_011255.14:g.4923289C>T
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 ss1631518 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs197155 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
ss259457KWOK|OVLP-000621-100203fwd/TA/Ggagcgtgggccctggtccactaagcaccagaccccatctatagcaccaggctggcatcac06/30/0010/10/0379Genomic97 %
ss509162SC_JCM|AC019114.4_85659fwd/TA/Ggagcgtgggccctggtccactaagcaccagaccccatctatagcaccaggctggcatcac07/12/0010/10/0380Genomicunknown
ss1255035KWOK|OVLP-000804-567528fwd/TA/Ggagcgtgggccctggtccactaagcaccagaccccatctatagcaccaggctggcatcac09/02/0010/10/0386Genomic97 %
ss1631518KWOK|OVLP-000925-123645fwd/TA/Ggagcgtgggccctggtccactaagcaccagaccccatctatagcaccaggctggcatcac10/04/0010/10/0387Genomic97 %
ss85929109HGSV|Cor19129_SNV_20070510.chr19_4934289rev/BC/Tgtgatgccagcctggtgctatagatggggtctggtgcttagtggaccagggcccacgctc12/06/0712/10/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs197155|allelePos=201|totalLen=1668|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GGCCAGGACC ACCGCCAGAC AGCCTAGCTC TTCTTCAGCC GCACCTGTCG CAGCGTGTCC
 TGCCATTGCT GGTGAATGTC AGGTGTGTCT CATCTCTCCA GCCAGACACC ATCAGAGCCA
 TAAGTCCTGC CTGGGATAGG CGGGGGCAGG ATTGGGAGGG TGGGAGGAAG GAGCGTGGGC
 CCTGGTCCAC TAAGCACCAG
 R
 ACCCCATCTA TAGCACCAGG CTGGCATCAC GCTCAGTGCA TCCGGGGCCA GGGCCCTCCC
 CAAATGATCA ACCACGTAGG GCCAGCTCTC AGGGGAAATA CACAATGAAT GTCAAAGACA
 GCACCCAAAA AAAAAAAAAA AAGAAAagaa aaagcagtgt gaaacatctc accaacagtt
 ttgaagatga tgattacatg ctgaaatgat aaaactgggg gtatactggg ttcaatacaa
 tacactgtaa taattaattt cccccatttc tcttcacctt ttaactcagc taccagaaaa
 ttcagacaca cgggcttgtt ctgcatcctc actggacagc gctgCCTTAA AACATACATC
 ACTTTTAggc caggtgcagt gactcacacc tgtcatccca gcattttcag aggccaaggc
 aggcagatca cgaggtcagg agtttgagac cagcctggcc aacacagtga aactctgtct
 ctactaaaaa tacaaaaatt agctgggtgt ggtggcacgc gcctgtagtc ccagctactc
 aggaggctga gacaggagaa tcgcttgaac ccgggaggtg gaggttgcag tgagccgaga
 tctcgccact gcactccagc ctggttgaca cagtgagact ccgccacaaa aaaagaaaga
 gagaaagaga gagagagaga gagagaACAT CACTTTTGGT TATACAGACA AGCCATTAAA
 AACATAGaaa taaaaataat tttaaatttt tttaaaaaaa GGAAATACAA CATTTTACAT
 ATACATCCAG GTTTTCTTCT AGAGGCtttt tttttttttt tttttgagac ggagtcttgc
 tcttgtcacc caggctggag cgcagtggtg cgatcttggc tcactgcaac ctccgcctct
 caggttcaag agattcttat acctcagcct cctgagtagc tgggattaca ggcatgtgcc
 actgcgtctg gctttttttt tttttggaga cagaatctca ctgtgctgcc caggctggag
 tacagtggtg caatcttggc tcactgcagc ctccatctcc caggttcaag cgattctcct
 gcctcagcct ccaagtagct gggattacag gcctgcacca acacaccagg ctaattttgt
 gtatttttta gtagagacgg ggttttgcca tgttggccag gctggtctca aactcctgac
 ctcaggtgat ctgcccacct cagcctccca aagtgctggg atgacaggca tgagccactg
 cacctggctC TTCTAGAGGT TTTGTAATCG TTTTAGTAAC ATGTTCTCAT CTCTGCTACA
 TGTGGGGTTG GCTTCTGGCC ATGGTGTGAG GCAGGGGTCC ACCTTCACCA CATGACACTT
 GGTAGTGTTT AGTTACGTGA CCGCCCCCTG CCATGGGGTC TTCCCATGTT CATCAGCAGC
 CCCTGGGGTA CTGATGGGGC ACCCCAG

  GeneView back to top
GeneView via analysis of contig annotation: JMJD2B jumonji domain containing 2B
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_011255->NM_015015
function
HuRefNW_001838477->NM_015015
function
CeleraNW_927173->NM_015015
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011255->NM_015015->NP_0558304923289forwardintron
HuRefNW_001838477->NM_015015->NP_0558301479343reverseintron
CeleraNW_927173->NM_015015->NP_0558304179203forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs197155 maps exactly once on NCBI human chromosome 19
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
19NW_001838477.214793434744899plusGalt_assembly_8HuRefHuRefview200
19NW_927173.141792034920479minusCalt_assembly_1CeleraCeleraview200
19NT_011255.1449232894934289minusCref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC019114.5 AC053467 AC053467.1
dbSNP Blast Analysis

  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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .