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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6103174          
refSNP ID: rs6103174
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:114/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_002895.2:c.3036+909G>A
NT_011362.9:g.684111C>T
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 ss10973626 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6103174 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
ss8428930SC_SNP|NT_011362.7_684111fwd/BC/Tgctggagtgcaaaggggtgatctcggctcatgcaacctccgcctgccgggttcaagtgat04/17/0310/10/03114Genomicunknown
ss10973626BCM_SSAHASNP|chr20.NT_011362.8_684111fwd/BC/Tgctggagtgcaaaggggtgatctcggctcatgcaacctccgcctgccgggttcaagtgat06/30/0310/10/03117Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6103174|allelePos=942|totalLen=1503|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=117
 GAGTCTAAAT CTGTGAAAAG ATGTCCATGA GGTAGAGTTG AATTAAAATA GCAGGTTGCA
 GAACAATaaa aaaaaaaaaa aaaaaaaaaa acaaaCCAAA CCAATCCAAA CCAAAACAAC
 TGAATTTACT GTATAACAGT AGCTCTCGAT GTGTAGTACC CAGACCAGAA GCAGCAGAAG
 CATCTAGAAt tttttatttt ttgagacagt ctctctctgt tgcccaggct ggagtgcagg
 gcatgatctt ggctcactgc aagctctgcc tcctgggctc aagctattct cctgcctcag
 cctccctagc tgggactaca ggcacatgcc accatgcctg gctatttttt tgtcttttta
 gtagagacag ggttttgcca tgttggccag gctggtcttg aactcctggc ctcaagtgtt
 cccccacctt gggctcccaa aatgctagaa ttacaggtgt gagccaccgt gcctagccTT
 ATCTGttttt tttttttttt tttttttttg agactaagtc ttgctcttgt cgcccaggct
 ggagtgcaat ggcacgatct cggctcactg caacctctgc ctcctgggtt caagcgattc
 tcctgcctca gcctcccaag tagctgggat tacaggtgcc caccaccatg cccggctaat
 ttttgtattt ttagagacgg ggtttcacca tgttggccag gctggtcttg aactcctgat
 ctcgtgatct gcctgcctcg gcctcccaaa gtgctgggat tacaggcatg agccaccgtg
 cccggccCTa atctgtttta acaagccctc ccaatgattt taaagctccc tacagtttga
 gaTCTTCTTC CTTAGAGTAA TGATTTTCAA CAtttttttt ttttgagaca gagtctcgtt
 ctgtcgccca ggctggagtg caaaggggtg atctcggctc a
 Y
 tgcaacctcc gcctgccggg ttcaagtgat tctcctgcct cagcctccac agcagagtag
 ctgagattat aggtgcgcac caccatgcct ggctaatttt ttgtattttt agtaaagacg
 gggtttcacc atgttgccca ggctggtctt gaactcctga gctcaggcaa tctgcccgcc
 ttggcctccc aaagtgctag gattacaggc ttgagtcact gtgtccagtc AGGTATATTA
 TCTTAGCCAA CTTTGTCAAG TATAGTAGGA ACTCTGTAGT TATCTGTATA ACTGAATAGG
 AAAGTAATAA GAAGGAGCCA CTGTATTTGG ACAGAGTTAC AATCTGCCCC ACTACAATTT
 CTTCCAGTTT ATACTGATTC TGACTTCTGG AGACATACTG AACATATCTG CTTGATAGTC
 CATGAAGTCT CTGAAAACAG CAATCATGTC CATACCACAT CTTCACCACT GAACAAGGAT
 AAGGATGGAG ATGATCACAG AGTTGTCTAT GTACGTAAGA GGAGGCTTGT GTTTTCAGAC
 ATCTTCCTAT CCTGGGTGCC A

  GeneView back to top
GeneView via analysis of contig annotation: RBL1 retinoblastoma-like 1 (p107)
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_011362->NM_002895
svfunction
referenceNT_011362->NM_183404
svfunction
HuRefNW_001838665->NM_002895
svfunction
HuRefNW_001838665->NM_183404
svfunction
CeleraNW_927339->NM_002895
svfunction
CeleraNW_927339->NM_183404
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011362->NM_002895->NP_002886684111reverseintron
referenceNT_011362->NM_183404->NP_899662684111reverse3' near gene
HuRefNW_001838665->NM_002895->NP_002886686056reverseintron
HuRefNW_001838665->NM_183404->NP_899662686056reverse3' near gene
CeleraNW_927339->NM_002895->NP_0028865841905reverseintron
CeleraNW_927339->NM_183404->NP_8996625841905reverse3' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6103174 maps exactly once on NCBI human chromosome 20
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
20NW_927339.1584190532338796plusCalt_assembly_1CeleraCeleraview941
20NW_001838665.168605632366145plusCalt_assembly_8HuRefHuRefview941
20NT_011362.968411135064610plusCref_assemblyreferencereferenceview941

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011362
dbSNP Blast Analysis
GenBank HTGS Finished:
AL365505.15 NC_000020.9

  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, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .