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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs613440          
refSNP ID: rs613440
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/129
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_001083592.1:c.91+104205G>A
NM_005012.2:c.91+104205G>A
NT_032977.8:g.34316303G>A
Links

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 ss1967461 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs613440 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
ss785665SC_JCM|AC025544.3_104561fwd/BC/Tggatgagagtaaccagggcagcagatggagagacagggctccacctttaggttttctgga07/27/0010/10/0383Genomicunknown
ss1150177KWOK|OVLP-000804-456171fwd/BC/Tggatgagagtaaccagggcagcagatggagagacagggctccacctttaggttttctgga09/02/0010/10/0386Genomic99 %
ss1244246KWOK|OVLP-000804-465098fwd/BC/Tggatgagagtaaccagggcagcagatggagagacagggctccacctttaggttttctgga09/02/0010/10/0386Genomic97 %
ss1934217KWOK|OVLP-000925-727318fwd/BC/Tggatgagagtaaccagggcagcagatggagagacagggctccacctttaggttttctgga10/06/0010/10/0387Genomic99 %
ss1934503KWOK|OVLP-000925-728486fwd/BC/Tggatgagagtaaccagggcagcagatggagagacagggctccacctttaggttttctgga10/06/0010/10/0387Genomic99 %
ss1967461KWOK|OVLP-000925-729136fwd/BC/Tggatgagagtaaccagggcagcagatggagagacagggctccacctttaggttttctgga10/06/0010/10/0387Genomic97 %
ss2427187SC_JCM|AL353713.7_67025fwd/BC/Tggatgagagtaaccagggcagcagatggagagacagggctccacctttaggttttctgga11/03/0010/10/0392Genomicunknown
ss11340694WI_SSAHASNP|chr1.NT_032977.5_16793295rev/TA/Gtccagaaaacctaaaggtggagccctgtctctccatctgctgccctggttactctcatcc07/03/0310/10/03116Genomicunknown
ss16411058CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_032977.6_25907454rev/TA/Gtccagaaaacctaaaggtggagccctgtctctccatctgctgccctggttactctcatcc02/17/0403/04/04120Genomicunknown
ss20498046SSAHASNP|WGSA-200403-chr1.chr1.NT_032977.6_25907454rev/TA/Gtccagaaaacctaaaggtggagccctgtctctccatctgctgccctggttactctcatcc03/18/0403/18/04121Genomicunknown
ss41164972ABI|hCV587298rev/TA/Gtccagaaaacctaaaggtggagccctgtctctccatctgctgccctggttactctcatcc07/16/0507/17/05126Genomicunknown
ss87490929BCMHGSC_JDW|JWB-0056702rev/TA/Gtccagaaaacctaaaggtggagccctgtctctccatctgctgccctggttactctcatcc02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs613440|allelePos=360|totalLen=830|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 TCTGGGGCTT CTATCTCTCC CTCTTCTAAC AGTTTATTTT CCTTTAAATT GTCCTTTCAA
 CATAAGCCTT AATAGTTGGG GTTTCAAACC CTTTAGAGGA aattaattaa ttggttaatt
 aattaatGAA ATTATTCAAC AAATGGAGGC TCAGGACCTG TAATGCAACA GGCTTCATAT
 ACCATGAGGA CTGAACAGGC TGCGGTCTGC ACTCTCCTGA AGTTTGCAGC CTTGTGAGGG
 AGACTGGCAA GAAATAAGTA CATAACTATG CAGTAGTAAC AAATTGTGAA AAGGCCTCAC
 AGTACTTATA AAAAGAGAAT GAATGCCCTG GATGAGAGTA ACCAGGGCAG CAGATGGAG
 Y
 AGACAGGGCT CCACCTTTAG GTTTTCTGGA AAGAGGGAAG GATGAAAGAT GAATAGGTTG
 GTGCTGAGGA GCAAAGTCAG CAGAGGCTAG ACCCACAGAG TCCTGTAAGC CAAGCCATGG
 CAAGGATTTC AGCCCTAAAC CTGTAAGCAA ATGGCAGCCG TGAAGGAGTT TTAAACCAAG
 AAAGCTCATG ATCAGATTTC TGTTTAAAAA AAAAAAAATC ACTCCAGCTA CAATGTGGTG
 AATAGATTAG AAGGGGACAG AGAAAATGTA CAGAGACCGT CAGGAGACTG CTGCAAGTTG
 CAGGTCTTGA AACTGTTAAG CAAATAACAA TTAGGTTTAT TTCCGATCAG TTCCTCATCG
 TCAAGGAATG GTAATGGTGT TGTCAAAGCA AAATGGAAGT AAAGGTATAT AAAAACGCTT
 GCAAATACTC AGGGATATTT GGAAATAATG CATTCACAAG CATTCCACAT

  GeneView back to top
GeneView via analysis of contig annotation: ROR1 receptor tyrosine kinase-like orphan receptor 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_032977->NM_001083592
svfunction
referenceNT_032977->NM_005012
svfunction
HuRefNW_001838579->NM_001083592
svfunction
HuRefNW_001838579->NM_005012
svfunction
CeleraNW_921351->NM_001083592
svfunction
CeleraNW_921351->NM_005012
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_032977->NM_001083592->NP_00107706134316303forwardintron
referenceNT_032977->NM_005012->NP_00500334316303forwardintron
HuRefNW_001838579->NM_001083592->NP_00107706119342473reverseintron
HuRefNW_001838579->NM_005012->NP_00500319342473reverseintron
CeleraNW_921351->NM_001083592->NP_00107706138495103forwardintron
CeleraNW_921351->NM_005012->NP_00500338495103forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs613440 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
1NW_001838579.21934247362452249plusTalt_assembly_8HuRefHuRefview359
1NW_921351.13849510362634245minusAalt_assembly_1CeleraCeleraview359
1NT_032977.83431630364116972minusGref_assemblyreferencereferenceview359

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_032977 AC025544 AL161742 AL161742.3 AL161742.4 AL353713.7 AL356914 AL356914.2
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL353713.7 NC_000001.9 AC025544.4 AL356914.2

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .