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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2375868          
refSNP ID: rs2375868
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
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_002180.2:c.1061-3945C>T
NT_033903.7:g.13998501C>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 ss3335125 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2375868 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
ss3335125TSC-CSHL|TSC1547128fwd/BC/Tcaatcttgattcactgcagcctcctcctccgggttcaagtgattcttgtgcctcagcctc09/20/0110/10/03100Genomicunknown
ss39894923ABI|hCV26266142fwd/BC/Tcaatcttgattcactgcagcctcctcctccgggttcaagtgattcttgtgcctcagcctc07/16/0507/16/05126Genomicunknown
ss84086240HGSV|Cor19129_SNV_20070510.chr11_68449282fwd/BC/Tcaatcttgattcactgcagcctcctcctccgggttcaagtgattcttgtgcctcagcctc12/06/0712/06/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2375868|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 tttcccctgt tctgtggatt agaagcaagt ctcaggcccc acccacattt gaggggaagg
 gattatgcaa gatgtgaata ccagtggCCA GGATCCTGGG GCATACCTTA AAGcaagttt
 gtctaactaa aggcctgcag gccacatgta gcccaggata ctttgaatgt ggcccaacac
 aaatttataa actttcttaa aacattatga gatttttgtc tctgtgtttt ttttttaagc
 tcatcagcta ttgtcaatgt tagcatattt tatgtgtggc ccaagacaat tcttcttctt
 ttaatatggc cctgggaagc caaaagattg cacatccctg CCTTAGAGTC TGTTTGCCAC
 AACCTCTCAG CTGGTGGGCT GCTCTAAGGA ACAGAGTCCA GGttcttttt tttttttttt
 ttttttgaga cagcatctca ctctgttgcc caggctgtag tgcagtggca caatcttgat
 tcactgcagc ctcctcctcc
 Y
 gggttcaagt gattcttgtg cctcagcctc ctgagtagct gggattgcag gcgcatgcca
 ccaggcccag ctaatttttt ttgtatattt tgtagagact ggatttcacc atgttggcca
 ggctggtctc gaacttctga cctcaaatga tgtgcccacc ttggcctccc aaagtgctag
 gattacagga gtgagccacc acacctggct AGATTCTAAT TGGCTTTGTA GTTATTGCTT
 TATCCAGTTG TGTTTTAAAT CAGACAGGAG AAAAAAAGGG TCACAAGCAG AAAATACATT
 TATGGGGTct tttatatcta cccatgtagt tgcctttatt tcttcatgta gatttgagtt
 actctctcca aaggactccc tttggtattt cttgaagggc aggtttgctg tgacagattc
 tctaagctca tctttatctg ggcatgtctt agtttctcct tcattttttg aaggatagtc
 ttgctgggta tagaattctt

  GeneView back to top
GeneView via analysis of contig annotation: IGHMBP2 immunoglobulin mu binding protein 2
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_033903->NM_002180
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_033903->NM_002180->NP_00217113998501forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2375868 maps exactly once on NCBI human chromosome 11
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
11NW_001838025.237139265031493minusGalt_assembly_8HuRefHuRefview500
11NW_925106.11438028966032213plusCalt_assembly_1CeleraCeleraview500
11NT_033903.71399850168449282plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
GenBank HTGS Finished:
AP000808.6 AP003732.4

  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 .