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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs197156          
refSNP ID: rs197156
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:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_015015.1:c.-109+13973G>A
NT_011255.14:g.4923214G>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 ss1631519 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs197156 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
ss259458KWOK|OVLP-000621-100205fwd/BC/Tgggccagggccctccccaaatgatcaaccagtagggccagctctcaggggaaatacacaa06/30/0010/10/0379Genomic97 %
ss554457SC_JCM|AC019114.4_85733fwd/BC/Tggggccaggccctccccaaatgatcaaccagtagggccagctctcaggggaaatacacaa07/12/0010/10/0387Genomicunknown
ss1255036KWOK|OVLP-000804-567530fwd/BC/Tgggccagggccctccccaaatgatcaaccagtagggccagctctcaggggaaatacacaa09/02/0010/10/0386Genomic97 %
ss1631519KWOK|OVLP-000925-123647fwd/BC/Tgggccagggccctccccaaatgatcaaccagtagggccagctctcaggggaaatacacaa10/04/0010/10/0387Genomic97 %
ss10938244BCM_SSAHASNP|chr19.NT_011255.13_4923214rev/TA/Gttgtgtatttcccctgagagctggccctactggttgatcatttggggagggccctggccc06/30/0310/10/03116Genomicunknown
ss17618525CSHL-HAPMAP|CSHL-HuCC-200402.chr19.NT_011255.14_4923214rev/TA/Gttgtgtatttcccctgagagctggccctactggttgatcatttggggagggccctggccc02/19/0403/04/04120Genomicunknown
ss82991075HGSV|Cor18956_SNV_20070510.chr19_4934214rev/TA/Gttgtgtatttcccctgagagctggccctactggttgatcatttggggagggccctggccc11/30/0712/04/07130Genomicunknown
ss85200007HGSV|Cor19129_SNV_20070510.chr19_4934214rev/TA/Gttgtgtatttcccctgagagctggccctactggttgatcatttggggagggccctggccc12/06/0712/08/07130Genomicunknown
ss90888774BCMHGSC_JDW|JWB-1138656rev/TA/Gttgtgtatttcccctgagagctggccctactggttgatcatttggggagggccctggccc02/26/0803/01/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs197156|allelePos=201|totalLen=1593|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 ATGTCAGGTG TGTCTCATCT CTCCAGCCAG ACACCATCAG AGCCATAAGT CCTGCCTGGG
 ATAGGCGGGG GCAGGATTGG GAGGGTGGGA GGAAGGAGCG TGGGCCCTGG TCCACTAAGC
 ACCAGGACCC CATCTATAGC ACCAGGCTGG CATCACGCTC AGTGCATCCG GGGCCAGGGC
 CCTCCCCAAA TGATCAACCA
 Y
 GTAGGGCCAG CTCTCAGGGG AAATACACAA TGAATGTCAA AGACAGCACC CAAAAAAAAA
 AAAAAAAGAA Aagaaaaagc agtgtgaaac atctcaccaa cagttttgaa gatgatgatt
 acatgctgaa atgataaaac tgggggtata ctgggttcaa tacaatacac tgtaataatt
 aatttccccc atttctcttc accttttaac tcagctacca gaaaattcag acacacgggc
 ttgttctgca tcctcactgg acagcgctgC CTTAAAACAT ACATCACTTT TAggccaggt
 gcagtgactc acacctgtca tcccagcatt ttcagaggcc aaggcaggca gatcacgagg
 tcaggagttt gagaccagcc tggccaacac agtgaaactc tgtctctact aaaaatacaa
 aaattagctg ggtgtggtgg cacgcgcctg tagtcccagc tactcaggag gctgagacag
 gagaatcgct tgaacccggg aggtggaggt tgcagtgagc cgagatctcg ccactgcact
 ccagcctggt tgacacagtg agactccgcc acaaaaaaag aaagagagaa agagagagag
 agagagagag aACATCACTT TTGGTTATAC AGACAAGCCA TTAAAAACAT AGaaataaaa
 ataattttaa atttttttaa aaaaaGGAAA TACAACATTT TACATATACA TCCAGGTTTT
 CTTCTAGAGG Cttttttttt tttttttttt gagacggagt cttgctcttg tcacccaggc
 tggagcgcag tggtgcgatc ttggctcact gcaacctccg cctctcaggt tcaagagatt
 cttatacctc agcctcctga gtagctggga ttacaggcat gtgccactgc gtctggcttt
 tttttttttt ggagacagaa tctcactgtg ctgcccaggc tggagtacag tggtgcaatc
 ttggctcact gcagcctcca tctcccaggt tcaagcgatt ctcctgcctc agcctccaag
 tagctgggat tacaggcctg caccaacaca ccaggctaat tttgtgtatt ttttagtaga
 gacggggttt tgccatgttg gccaggctgg tctcaaactc ctgacctcag gtgatctgcc
 cacctcagcc tcccaaagtg ctgggatgac aggcatgagc cactgcacct ggctCTTCTA
 GAGGTTTTGT AATCGTTTTA GTAACATGTT CTCATCTCTG CTACATGTGG GGTTGGCTTC
 TGGCCATGGT GTGAGGCAGG GGTCCACCTT CACCACATGA CACTTGGTAG TGTTTAGTTA
 CGTGACCGCC CCCTGCCATG GGGTCTTCCC ATGTTCATCA GCAGCCCCTG GGGTACTGAT
 GGGGCACCCC AG

  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_0558304923214forwardintron
HuRefNW_001838477->NM_015015->NP_0558301479418reverseintron
CeleraNW_927173->NM_015015->NP_0558304179128forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs197156 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_001838477.214794184744824plusCalt_assembly_8HuRefHuRefview200
19NW_927173.141791284920404minusGalt_assembly_1CeleraCeleraview200
19NT_011255.1449232144934214minusGref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011255 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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .