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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7251106          
refSNP ID: rs7251106
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
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 ss10928013 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7251106 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
ss10928013BCM_SSAHASNP|chr19.NT_011255.13_706103byFreqfwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg06/30/0304/07/04116Genomicunknown
ss14705377BCM_SSAHASNP|chr19.NT_011255.14_706103fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg11/10/0311/22/03119Genomicunknown
ss19397603CSHL-HAPMAP|CSHL-HuDD-200402.chr19.NT_011255.14_706103fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg02/20/0403/04/04120Genomicunknown
ss41022035ABI|hCV2549706rev/BG/Tccgtgagacaggagaacatcctgggtgacaggaggcccagtgtcctcatagggccctcac07/17/0507/17/05126Genomicunknown
ss65787897ILLUMINA|Human1-rs7251106fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg10/10/0610/10/06127Genomicunknown
ss66565081ILLUMINA|HumanHap300v1.1_rs7251106fwd/BA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg11/09/0611/09/06127Genomicunknown
ss67561975ILLUMINA|HumanHap550v1.1_rs7251106fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg11/14/0611/14/06127Genomicunknown
ss67939720ILLUMINA|HumanHap650Yv1.0_rs7251106fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg11/14/0611/15/06127Genomicunknown
ss70919334ILLUMINA|HumanHap550v3.0__rs7251106rev/BG/Tccgtgagacaggagaacatcctgggtgacaggaggcccagtgtcctcatagggccctcac04/20/0703/31/08130Genomicunknown
ss71518788ILLUMINA|HumanHap650Yv3.0_rs7251106fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg04/23/0704/23/07127Genomicunknown
ss75677735ILLUMINA|ILMN_Human_1M_rs7251106fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg08/28/0708/29/07129Genomicunknown
ss79251942ILLUMINA|HumanHap300v2.0_rs7251106fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg04/18/0711/18/07130Genomicunknown
ss84646429KRIBB_YJKIM|KHS767978fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg12/04/0712/07/07130Genomicunknown
ss90878323BCMHGSC_JDW|JWB-1134795fwd/TA/Cgtgagggccctatgaggacactgggcctcctgtcacccaggatgttctcctgtctcacgg02/26/0803/01/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7251106|allelePos=556|totalLen=894|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 GCGGGAAGGG AGGGCCTCAC ACACAGTCCT GGGTGAGTCC CATCAGTTTC TCCACTGTCT
 GCCACCCCAT CTTCCCCCGA TGCCCCATGT TCTGTCCCTC TGTCCCTGTG CTCTGAGGAT
 GTGTGAGCCT CCACTGGCTA CTATAACAAA TCACCACCCA CCTAATGACT TAAAACAGCA
 GACATggttg ggcgcagtgg ctcacgcctg taatcccaac actttgggag gccgaggcgg
 gcagatcacc tgaggtcagg agttcgagac cagcttgacc aacatggtga aagtccgtct
 ctactaaaaa tacaaaaaat tagctgggcc tggtggcaaa tgccagtaat cccagctact
 tgggaggctg aggcaggaga atcacttgaa ctggggaggt ggagattgca gtgagccaag
 atcgtgctat tgcactccag cctgggtgac agagtgagac tctgtctcaa aaaaaaaaGG
 CAATCtctcc ctgtctctct caggctcacc ttcctgcctc ctctcgtgag ggccctatga
 ggacactggg cctcc
 M
 tgtcacccag gatgttctcc tgtctcacgg tccattactc agtcccatct gcaggtgctt
 ctgccacgag aggtgacacg gccacaggtc ccggggatta ggaaagggat gtctttgggg
 ccattgttct gcccaccaGA GGATCTCGAC ATCCCCCTTC TCCGTGACTC TTCAGTCACC
 TCTGCTCAGG GCCGGCCAGG ACTGTTGCAC AGGCTGTGCC CTGCACAAGC CCCCTGCCAA
 GACCAAAGGG CAAGGCTCTG TGTGCGGCCA GGGTCCCCGT CTTCAGTGTC CCTGGCCCTG
 GCTGTGGCCT GTTGCCAGAC ACCGCGTCAC CAAGGGGT

  GeneView back to top
GeneView via analysis of contig annotation: C19orf21 chromosome 19 open reading frame 21
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
CeleraNW_927140->NM_173481
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
CeleraNW_927140->NM_173481->NP_77575250309reverse3' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7251106 maps exactly once on NCBI human chromosome 19
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
19NW_927140.15030950309minusTalt_assembly_1CeleraCeleraview555
19NW_001838476.1524872535673plusAalt_assembly_8HuRefHuRefview555
19NT_011255.14706103717103plusAref_assemblyreferencereferenceview555

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011255
dbSNP Blast Analysis
GenBank HTGS Finished:
AC004030.2 AC114272.4 NC_000019.8

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss10928013HapMap-CEUEuropean 120IG 0.117 0.467 0.417 1.000 0.350 0.650
HapMap-HCBAsian 90IG 0.600 0.400 0.100 0.800 0.200
HapMap-JPTAsian 90IG 0.800 0.200 0.479 0.900 0.100
HapMap-YRISub-Saharan African 120IG 0.567 0.317 0.117 0.150 0.725 0.275

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.441+/-0.16127021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .