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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11998075          
refSNP ID: rs11998075
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
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_014462.1:c.115+697G>A
NT_007995.14:g.8349175C>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 ss17993198 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11998075 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
ss17993198CSHL-HAPMAP|CSHL-HuCC-200402.chr8.NT_008251.14_91051fwd/BC/Tataagcagccttgggccgggcacaatggctgcgcctataatctcagcactatgggagcta02/19/0403/04/04120Genomicunknown
ss43119469ABI|hCV2445206fwd/BC/Tataagcagccttgggccgggcacaatggctgcgcctataatctcagcactatgggagcta07/18/0507/18/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11998075|allelePos=218|totalLen=718|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=126
 AAATGCAGGA TGCGAAACAA AGACAGAGGC CTCTTATTCC AATGTATCCC TATATGTAAA
 GTATTAAGCT TAATGTTGGG GTCCTTAAAA TAAAGGAAAT GCCTTCTACC CAATTTTCAT
 TGGCTAGGGA GGGATTACCT TCACTTCCGG AACTGCTTTG AAGTCATTTT ACCCTGCCAA
 TGTAGAAATA AGCAGCCTTG GGCCGGGCAC AATGGCT
 Y
 GCGCCTATAA TCTCAGCACT ATGGGagcta agaccagcct tccagctgtc cccactgatg
 caccagacat gtgagtgaag ctccttcaaa ccagctgact caccttctag acaccaaggg
 actgtcctaa aaccatgagg agcagaacaa ctgcccagct cagcTGggtg ggtggatcac
 ctaaggtcag gagtttgaaa ccagcctggc caacatggcg aaaccccgtc tctactaaaa
 atacaaaaat tagctggggg tggtggctgg agcctataat ctcagctact tgggaggctg
 aggcacaaga atcacttgaa cccaagaggc ggaggttgca gtgagccaag attgtgccac
 tgcactccag cctgggtgac cgagagcgCG TCTAAACAAa aaacaaaaca aaacaaaaca
 aGCCTCTTCG GTGGACTGAG TTTATTTCTA TCATTTGGCT CCCCCTACTG GGGATTCTAC
 TGAAAGCCAG TTTTAGAAAC

  GeneView back to top
GeneView via analysis of contig annotation: LSM1 LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)
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_007995->NM_014462
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007995->NM_014462->NP_0552778349175reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11998075 maps exactly once on NCBI human chromosome 8
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
8NW_001839128.274755936563447minusGalt_assembly_8HuRefHuRefview217
8NW_923907.12554916036981322plusCalt_assembly_1CeleraCeleraview217
8NT_007995.14834917538147943plusCref_assemblyreferencereferenceview217

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008251
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
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .