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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2711224          
refSNP ID: rs2711224
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/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_198097.2:c.522+32C>G
NT_007819.16:g.6350838G>C
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 ss3831129 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2711224 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
ss3831129SC_JCM|AC079882.3_195045fwd/BC/Gatatttctctaagaacctgatgaatgcttataaagttataaatgaaattcaaaatactta09/25/0110/10/03100Genomicunknown
ss6511802WI_SSAHASNP|NT_007819.11_6157550fwd/BC/Gatatttctctaaaaacctgatgaatgcttataaagttataaatgaaattcaaaatactta02/12/0310/10/03111Genomicunknown
ss10389765BCM_SSAHASNP|chr7.NT_007819.13_6157553fwd/BC/Gatatttctctaaaaacctgatgaatgcttataaagttataaatgaaattcaaaatactta06/29/0310/10/03117Genomicunknown
ss14540947WUGSC_SSAHASNP|chr7.NT_007819.14_6157553fwd/BC/Gatatttctctaaaaacctgatgaatgcttataaagttataaatgaaattcaaaatactta11/05/0311/22/03120Genomicunknown
ss85956200HGSV|Cor18956_SNV_20070510.chr7_6635120fwd/C/Gatatttctctaaaaacctgatgaatgcttataaagttataaatgaaattcaaaatactta11/30/0712/10/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2711224|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 GACCCCGGGC AAACGCAGGA AGTCTGCCTT ACACCACAGC TGGAGGGAAG GTTCCAGAGC
 ACACGCCTCA TGCTTTCCTC GCTGCTCCAG TTTTGCGACG GTCTGTCTCA GGCTCTTTGC
 CACTTTCAAG TTCTGGGTTT TTTGTAGATA AGAAACAAAC TTGTCTGTCT ATATTTCTCT
 AAGAACCTGA TGAATGCTTA
 S
 TAAAGTTATA AATGAAATTC AAAATACTTA CCCGATGGAA GAATTTCTCT AATCTTTCTT
 TCAGAAGCTT GACGCCTCCG TCTTCCATGG CTTTCAGAAA TGTACCATTA AAAAGCTAGT
 GAGGTAAAAG ATTGCAGAAA AAAAAATCAG TTTCCTATGC TCACTTTTTC AGTATAACAA
 GTTCTTTTTT TCCTTTAGAT

  GeneView back to top
GeneView via analysis of contig annotation: C7orf28B chromosome 7 open reading frame 28B
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_007819->NM_198097
function
HuRefNW_001839003->XM_001720226
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_007819->NM_198097->NP_9327656350838reverseintron
HuRefNW_001839003->XM_001720226->XP_001720278551310reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2711224 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
7NW_001839003.15513106708085plusCalt_assembly_8HuRefHuRefview200
7NT_007819.1663508386828405plusGref_assemblyreferencereferenceview200
7NW_923240.127556831890plusCalt_assembly_1CeleraCeleraview200
7NT_079592.268589186908918plusGalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007819 AC004983
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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .