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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs577287          
refSNP ID: rs577287
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:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_182757.2:c.331+5819A>G
NT_007592.14:g.9304045A>G
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 ss2094439 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs577287 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
ss748738SC_JCM|AL138887.3_70723fwd/TA/Gttcagtaatcaattctactttttgtaagtaattgcagtttaagtctttgaatttgtctat07/27/0010/10/0383Genomicunknown
ss1109023KWOK|OVLP-000804-248102rev/BC/Tatagacaaattcaaagacttaaactgcaattacttacaaaaagtagaattgattactgaa09/02/0010/10/0386Genomic99 %
ss1703551KWOK|OVLP-000925-491961rev/BC/Tatagacaaattcaaagacttaaactgcaattacttacaaaaagtagaattgattactgaa10/05/0010/10/0387Genomic99 %
ss2094439TSC-CSHL|TSC0807482byFreqfwd/TA/Gttcagtaatcaattctactttttgtaagtaattgcagtttaagtctttgaatttgtctat10/19/0008/14/0788Genomic95 %
ss2595785SC_JCM|AL138887.5_67895rev/BC/Tatagacaaattcaaagacttaaactgcaattacttacaaaaagtagaattgattactgaa11/03/0010/10/0389Genomicunknown
ss10276953BCM_SSAHASNP|chr6.NT_007592.13_9304045fwd/TA/Gttcagtaatcaattctactttttgtaagtaattgcagtttaagtctttgaatttgtctat06/27/0310/10/03116Genomicunknown
ss11776671WI_SSAHASNP|chr6.NT_007592.13_9304045fwd/TA/Gttcagtaatcaattctactttttgtaagtaattgcagtttaagtctttgaatttgtctat07/04/0310/10/03116Genomicunknown
ss22381923SSAHASNP|WGSA-200403-chr6.chr6.NT_007592.13_9304045fwd/TA/Gttcagtaatcaattctactttttgtaagtaattgcagtttaagtctttgaatttgtctat03/21/0403/21/04121Genomicunknown
ss44753587ABI|hCV1905968fwd/TA/Gttcagtaatcaattctactttttgtaagtaattgcagtttaagtctttgaatttgtctat07/19/0507/19/05126Genomicunknown
ss66182513AFFY|SNP_A-2228544byFreqfwd/TA/Gctactttttgtaagtaattgcagtttaagtct10/27/0608/14/07127Genomicunknown
ss76249035AFFY|AFFY_6_1M_SNP_A-2228544fwd/TA/Gctactttttgtaagtaattgcagtttaagtct08/28/0708/30/07129Genomicunknown
ss93407958BCMHGSC_JDW|JWB-2104298fwd/TA/Gttcagtaatcaattctactttttgtaagtaattgcagtttaagtctttgaatttgtctat02/26/0803/04/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs577287|allelePos=453|totalLen=620|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 TAGTCTACTG AAACAGTTTT ATTTATTACA GCTGATAGTT AACTCAAGTG CATGGTGTTT
 CCCACAATAA TAAAAGTTCG TTTGATGTCT TTTTTGGCAC AATGGTGGAG AATGGCAGAA
 AAACCACTCC TGCTAGGACA GAGAATATAC AACAGAATCA AAAGCAAACT CAGCATATGT
 AATGCTGATG GTGCCAGTTG GGAAAACCAA GGGTTTTAAA TTGAGATTTT GAAATCTGAA
 GGCAATCATT AAGGTCAGAT GTGGTCTTTA GGTCTCATGG CAGTTTTATT TCCCAGAATG
 TTTCTGTTTC CCAGTAATAG TCAGAATACA GAAGTAGAAA ATAGTTTTAA ATAGCATTTC
 TTGCCTCGCA TAATTTACAT GAACATGCAG AGTCTCAAGA TCACATAGCT GTGGGGCTTT
 GCTTCAGTAA TCAATTCTAC TTTTTGTAAG TA
 R
 ATTGCAGTTT AAGTCTTTGA ATTTGTCTAT CTCTGATGTA AATATGTCAG AGTTAACCAC
 TTCTAAATCA TGTATAGTAA TATAAAATTT TGAAGGCACT ATTATTTAGG GGCTGACTTA
 CAGGGCCCTG GTTTCTCTTT TACTAGATTT CTGAACTTTT TCCCATC

  GeneView back to top
GeneView via analysis of contig annotation: RNF144B ring finger 144B
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_007592->NM_182757
svfunction
HuRefNW_001838973->NM_182757
svfunction
CeleraNW_922984->NM_182757
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_007592->NM_182757->NP_8774349304045forwardintron
HuRefNW_001838973->NM_182757->NP_87743414735123forwardintron
CeleraNW_922984->NM_182757->NP_87743418078937forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs577287 maps exactly once on NCBI human chromosome 6
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
6NW_001838973.11473512318390086plusGalt_assembly_8HuRefHuRefview452
6NT_007592.14930404518553773plusAref_assemblyreferencereferenceview452
6NW_922984.11807893719683681plusAalt_assembly_1CeleraCeleraview452

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007592 AL138725 AL138887.3 AL138887.5
dbSNP Blast Analysis
GenBank HTGS Finished:
AL138725.19 NC_000006.10

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss2094439HapMap-CEUEuropean 120IG 0.583 0.350 0.067 0.758 0.242
HapMap-HCBAsian 90IG 0.533 0.422 0.044 0.744 0.256
HapMap-JPTAsian 90IG 0.644 0.267 0.089 0.778 0.222
HapMap-YRISub-Saharan African 120IG 0.667 0.267 0.067 0.800 0.200
ss66182513HapMap-CEUEuropean 118GF 0.576 0.356 0.068 0.754 0.246
HapMap-HCBAsian 90GF 0.533 0.422 0.044 0.744 0.256
HapMap-JPTAsian 90GF 0.644 0.267 0.089 0.778 0.222
HapMap-YRISub-Saharan African 120GF 0.667 0.267 0.067 0.800 0.200

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.353+/-0.2282702102690

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .