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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7210398          
refSNP ID: rs7210398
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/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001092.3:c.1681-14129C>T
NM_021962.2:c.1792-14129C>T
NT_010718.15:g.533907G>A
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 ss10852278 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7210398 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
ss10852278BCM_SSAHASNP|chr17.NT_035414.4_533907byFreqfwd/TA/Gtggcctgcagggaggccggggaggaccagccccttctaccctccctaggtaccaagaagc06/30/0310/25/06116Genomicunknown
ss81792533HGSV|Cor19240_SNV_20070510.chr17_877283fwd/TA/Gtggcctgcagggaggccggggaggaccagccccttctaccctccctaggtaccaagaagc11/30/0712/01/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7210398|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TTCCAAAATG TCTGGGGCCT CATTGCCTCT GGGTACTACA GCAACACTGG GCTCAGGCAG
 CTTTGGCCTT TGAGGAACCC CCTTGATTGG CAGGTTCTCC TCTCCCTGGT CCAGAGCCAT
 CCAAAAGCTG GGGCACCGCG CCCAGCACCG CTGGCTGGCC AAGCCGTCTG TGGCCTGCAG
 GGAGGCCGGG GAGGACCAGC
 R
 CCCTTCTACC CTCCCTAGGT ACCAAGAAGC GGCACCTTGC CAAGTTCACT CAGAGCAGGG
 TTCCCGCCTT GATGTCTGCA GCCCCCTCTG AAGTCGCACA CAGTGTGTGC ATGGGGTGGC
 TCTGTGTCTG AGTGGCCTCC AGAACCTTCA TCAGATTCTC AGAGTCCAGG GTTCCCGCTC
 TGCGGACTCA AGCAAGCCTC

  GeneView back to top
GeneView via analysis of contig annotation: ABR active BCR-related gene
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_010718->NM_001092
svfunction
referenceNT_010718->NM_021962
svfunction
HuRefNW_001838403->NM_001092
svfunction
HuRefNW_001838403->NM_021962
svfunction
CeleraNW_926584->NM_001092
svfunction
CeleraNW_926584->NM_021962
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010718->NM_001092->NP_001083533907reverseintron
referenceNT_010718->NM_021962->NP_068781533907reverseintron
HuRefNW_001838403->NM_001092->NP_001083528688reverseintron
HuRefNW_001838403->NM_021962->NP_068781528688reverseintron
CeleraNW_926584->NM_001092->NP_001083860093reverseintron
CeleraNW_926584->NM_021962->NP_068781860093reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7210398 maps exactly once on NCBI human chromosome 17
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
17NW_001838403.1528688837518plusGalt_assembly_8HuRefHuRefview200
17NT_010718.15533907877283plusGref_assemblyreferencereferenceview200
17NW_926584.1860093942597plusGalt_assembly_1CeleraCeleraview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_035414
dbSNP Blast Analysis
GenBank HTGS Finished:
AC015884.15 NC_000017.9

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/G
G/G
HWPA
G
ss10852278HapMap-CEUEuropean 118IG 1.000 1.000
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 116IG 0.155 0.845 0.527 0.078 0.922

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.043+/-0.13927021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .