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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs10157704          
refSNP ID: rs10157704
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
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_001024216.1:c.717+2132C>T
NM_017556.2:c.1008+2132C>T
NT_004873.16:g.2498752C>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 ss14018654 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10157704 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
ss14018654WUGSC_SSAHASNP|chr1.NT_004873.15_2483079fwd/BC/Tccacctcctgggttcatgcggttctcctgctcagcctaccaagcagctgggactacaggc11/05/0311/22/03119Genomicunknown
ss16394167CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_004873.15_2483079fwd/BC/Tccacctcctgggttcatgcggttctcctgctcagcctaccaagcagctgggactacaggc02/17/0403/04/04120Genomicunknown
ss86009298HGSV|Cor18956_SNV_20070510.chr1_15851220fwd/BC/Tccacctcctgggttcatgcggttctcctgctcagcctaccaagcagctgggactacaggc11/30/0712/10/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10157704|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GGCGTGAGCC ACCGTGCCCA GCGttttttt atttttgaga cagtctcact ctgtctccca
 agttagagtg cagtggcatg atcttggctt actgcaacct ccagctccct ggttcaagca
 attctccctg cctcagcctc ctgagtagct gggattacag gtgcgtgcca ccacgcccgg
 ctaatttttg tatttttagt agagatgttg tttctccatg ttggccaggc tggtcttgaa
 ctcctgacct caggtgatcc acctgcctcg gcctcccaaa gtgctgggat tacaggcatg
 agccactgca cccagccTAG ATCAACTCTT TTGAATGTTA CTTTTTCACT TAGAAATTGT
 CTCTTTTAAA TTGTTTTTAT TAAAttttta tttatttatt ttttgagatg gcgtctcact
 ctgtcaccca ggctggagtg caccagtgcg atctcagctc actgcaacct ccacctcctg
 ggttcatgcg gttctcctgc
 Y
 tcagcctacc aagcagctgg gactacaggc atgtgccacc acacctgact aatttttgta
 tttagtagag atgagatttc accacgttgg ccaggctggt cttgaactcc tgacctcaag
 tgatccacct gcctcagcct cccaaagtgc tgggattaca ggtgtgagcc actgcacccg
 gccAGAAGTG GAAGTTTGTA GATGTGACTG GAGTGTAGAG GGCTGGGGTT ATGGTTAATG
 ATTAGGTCAG AGAGAAGGAA AGGACTATGG TGCCAGGCTA GAGAGTCTGG ACTTCAGGCT
 GCAGAGAGGG GTCAGGCTGA GATGGGCGAG CTGATTAGAA GCTGGTGCAG TTGTCCCAGG
 AAGAAGGGCC CAGGAGTCAT CACATGTGGC TTGGTGATCA GAAGGGTCCT ATGCTAGTTT
 TGAAGTTCTG CTATTGCTGT CTTTAAATTC TTGATTTTTG TTTGTTTGTT TGTTTTTAAT
 AGAGACAGAG ACTGGAGTCA

  GeneView back to top
GeneView via analysis of contig annotation: FBLIM1 filamin binding LIM protein 1
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_004873->NM_001024216
function
referenceNT_004873->NM_017556
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004873->NM_001024216->NP_0010193872498752forwardintron
referenceNT_004873->NM_017556->NP_0600262498752forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10157704 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_925794.1241452714588931plusCalt_assembly_1CeleraCeleraview500
1NW_001838564.274923514625150minusGalt_assembly_8HuRefHuRefview500
1NT_004873.16249875215978501plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004873
dbSNP Blast Analysis
GenBank HTGS Finished:
AL450998.19

  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 .