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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2071588          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NG_008184.1:g.5204G>C
NM_002281.2:c.154G>C
NM_002281.3:c.154G>C
NP_002272.1:p.Gly52Arg
NP_002272.2:p.Gly52Arg
NT_029419.11:g.14828402C>G
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 ss7927638 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2071588 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
ss2985254YUSUKE|IMS-JST007126fwd/BC/Gaccgggggcttcggcagccacagcgtgtgcgaggctttcgggccggctcctgcggacgca05/24/0110/10/0396Genomicunknown
ss3186634HGBASE|SNP000572218fwd/BC/Ggggcttcggcagccacagcgtgtgcgaggctttcgggccggctcctgcgg07/09/0110/10/0398Genomicunknown
ss6051700SC_JCM|NT_009609.12_1037351fwd/BC/Gaccgggggcttcggcagccacagcgtgtgcgaggctttcgggccggctcctgcggacgca01/10/0310/10/03111Genomicunknown
ss7927638DEVINE_LAB|DB_1_550388fwd/BC/Gaccgggggcttcggcagccacagcgtgtgcgaggctttcgggccggctcctgcggacgca03/16/0310/10/03113Genomic96 %
ss16569947CSHL-HAPMAP|CSHL-HuAA-200402.chr12.NT_029419.10_14828402rev/TC/Gtgcgtccgcaggagccggcccgaaagcctcgcacacgctgtggctgccgaagcccccggt02/17/0403/04/04120Genomicunknown
ss40089965ABI|hCV1221658rev/C/Gtgcgtccgcaggagccggcccgaaagcctcgcacacgctgtggctgccgaagcccccggt07/16/0507/16/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2071588|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=126
 TGACATCTTT TACAAAGAAG AGGGTGCAGG CCACTCCCCC ATTAAAGCAC ATTCTGGAGA
 GGCGTTAGAC CCGGCTAACC ACCCAAGCCC ATAAAGCGCA AATTGCCCCA ACATCATCTT
 CACAGCCAAG CCCCTTCAGA ATCTGCGCAT AAATAGGGCT GCGGTGCCCT GAGGAGCACA
 TTGGAGTTTC CATCAGGACT CCAGGTCCCC TATCCTGTCC TCTGCAACCC AAACGTCCAG
 GAGGATCATG ACCTGCGGAT CAGGATTTGG TGGGCGCGCC TTCAGCTGCA TCTCGGCCTG
 CGGGCCGCGG CCCGGCCGCT GCTGCATCAC CGCCGCCCCC TACCGTGGCA TCTCCTGCTA
 CCGCGGCCTC ACCGGGGGCT TCGGCAGCCA CAGCGTGTGC
 S
 GAGGCTTTCG GGCCGGCTCC TGCGGACGCA GCTTCGGCTA CCGCTCCGGG GGCGTGTGCG
 GGCCCAGTCC CCCATGCATC ACCACCGTGT CGGTCAACGA GAGCCTCCTC ACGCCCCTCA
 ACCTGGAGAT CGACCCCAAC GCGCAGTGCG TGAAGCAGGA GGAGAAGGAG CAGATCAAGT
 CCCTCAACAG CAGGTTCGCG GCCTTCATCG ACAAGGTGGG TGTCCTGGAT CACACCCTTC
 CTGAACCCCC ACCACCTACA CAGCCAGGGC CGGGCACTAA GGATGGAGTC AGAGGCACAA
 AGACCTCTGC CTGCCTGAGA TCCCAGTCTG ATGGGCGAGG cacacagaca cacagacaga
 cagacacatg cacagacaca cacacacaGG CACTCAAGAT

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
Y13621.1
dbSNP Blast Analysis

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .