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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11455298          
refSNP ID: rs11455298
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
Map to Genome Build:36.3
Allele
Variation Class:DIP:
deletion/insertion polymorphism
RefSNP Alleles:-/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_000336.2:c.-8-11202_-8-11201insT
NT_010393.15:g.14661790_14661791insT
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 ss82286740 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11455298 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
ss15344380DEVINE_LAB|INDEL_GP34_WGS_494694fwd/T-/Ttttctctttctttcttttttttttttttttgagatggagtttcactcttgtcgtccaggc11/13/0311/22/03120Genomicunknown
ss40732947ABI|hCV34277321fwd/-/Ttttctctttctttcttttttttttttttttgagatggagtttcactcttgtcgtccaggc07/17/0507/17/05126Genomicunknown
ss82286740HGSV|Cor18555_DIV_20070510.chr16_23256212-23256213_1fwd/-/Ttttctctttctttcttttttttttttttttgagatggagtttcactcttgtcgtccaggc11/30/0712/02/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11455298|allelePos=501|totalLen=1001|taxid=9606|snpclass=2|alleles='-/T'|mol=Genomic|build=130
 TGATACAAGT GCTACACAGA TTTAGCAAAA ATTGCAAAAG TGGTATACAA ATGATCAATG
 CTAAGGAAAG CATTGAATTA GCAGGTAGTT AGAGGGAAAT AACAAAATCA AGCTTATAAA
 TATTTATATG AAATACTCAT TTGAAATATT TCTTTTTACT ATTTATTTAT TAATTTTTTA
 GACAGTGTCT TGCTGTGTCA CCCAGGCTAG GCTTGCAATG ATACAATCAT AGCTAATTGC
 AACCTCCAAC TCCTGGGCTC AAGCAATCCT CCCACCTCAG CCTCCCCGGT AGCTGAGACC
 ACAGGCACAT GCCACCACAT TTGGCTAATT TTGTAAGTTT TTTGTAGAGG TGAGGCTTTC
 AATATGTTAC CTGGGCTGGT TTCAAACTCC TGGACTCCAG TGATCCTCCT GCTTCAGTCT
 CCCAAAGCAC TGGGATTACA GGCATGAGCT ACCAGGAGTG GCCAGGTTTC TTTCTCTTTC
 TTTCTTTTTT TTTTTTTTTT
 N
 GAGATGGAGT TTCACTCTTG TCGTCCAGGC TGGAGTGCAG TGGTATGATC TCGGCTCACT
 GCAACCTCCA CCTCCCTACC AGGTTCAAGC AATTCTCCTG CCTCAGCCTC CCAAGTAGCT
 GGAATTATAG GCACCTGTCA CCATGCCCGG CTAATTTTTG TATTTTTAGT AGAGACAGGG
 TTTCACCATG TTGACCAGGC TGGTCTCGAA TTCCTGACCT CAGGTGATCC ACTCACCTCG
 GCCTCCCAAA GTGCTGTGAT TACAGGCTTG AGCCACCGTG CTTGGCCCCA GGTTTCTTCT
 TATTTAGTGC AAATATATAT GACATAGTAA ATCAGAGATC AGCAAACTTC TTTAAAGTAC
 CAGATGGTTA ATATTTAAAC ATTTAAAACA TATAGGCCAG GCACAGTGGC TCATACCTGT
 AATCCCAGCA CTTTGGGAAG CCAAAGCAGG AGGATCACTT GAACCCAGGA GTTCAAGACC
 AGCTGGGCAA CATGGCAAAA

  GeneView back to top
GeneView via analysis of contig annotation: SCNN1B sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)
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_010393->NM_000336
svfunction
HuRefNW_001838400->NM_000336
svfunction
CeleraNW_926217->NM_000336
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010393->NM_000336->NP_00032714661790:14661791forwardintron
HuRefNW_001838400->NM_000336->NP_000327123072:123073reverseintron
CeleraNW_926217->NM_000336->NP_000327646218:646219forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11455298 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
16NW_001838400.2123072^12307321437070^21437071minus-alt_assembly_8HuRefHuRefview400..400
16NW_926217.1646218^64621922126014^22126015plus-alt_assembly_1CeleraCeleraview400..400
16NT_010393.1514661790^1466179123256212^23256213plus-ref_assemblyreferencereferenceview400..400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010393
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC008915.11 AC130452.3 NC_000016.8 AC025273.4

  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 .