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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs152524          
refSNP ID: rs152524
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
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_000800.2:c.169+1135T>C
NM_033136.1:c.169+1135T>C
NM_033137.1:c.169+1135T>C
NT_029289.10:g.3155316A>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 ss5578040 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs152524 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
ss245392KWOK|OVLP-000621-30358fwd/TA/Gggaacaacgtcacctcgtgtaaacgccagctccatccccattacctgtgcatctgagggt06/30/0010/10/0379Genomic89 %
ss323716KWOK|OVLP-000621-31366fwd/TA/Gggaacaacgtcacctcgtgtaaacgccagctccatccccattacctgtgcatctgagggt06/30/0010/10/0379Genomic99 %
ss498997SC_JCM|AC016560.5_182094rev/BC/Taccctcagatgcacaggtaatggggatggagctggcgtttacacgaggtgacgttgttcc07/12/0010/10/0380Genomicunknown
ss1273676KWOK|OVLP-000804-403431rev/BC/Taccctcagatgcacaggtaatggggatggagctggcgtttacacgaggtgacgttgttcc09/02/0010/10/0386Genomic94 %
ss1284241KWOK|OVLP-000804-407113fwd/TA/Gggaacaacgtcacctcgtgtaaacgccagctccatccccattacctgtgcatctgagggt09/02/0010/10/0386Genomic87 %
ss1320171TSC-CSHL|TSC0161514byFreqfwd/TA/Gggaacaacgtcacctcgtgtaaacgccagctccatccccattacctgtgcatctgagggt09/06/0004/07/0486Genomic95 %
ss1750942KWOK|OVLP-000925-530735rev/BC/Taccctcagatgcacaggtaatggggatggagctggcgtttacacgaggtgacgttgttcc10/05/0010/10/0387Genomic94 %
ss5578040TSC-CSHL|TSC0271258byFreqfwd/TA/Gggaacaacgtcacctcgtgtaaacgccagctccatccccattacctgtgcatctgagggt09/21/0210/25/06110Genomicunknown
ss11723640WI_SSAHASNP|chr5.NT_029289.9_3155317fwd/TA/Gggaacaacgtcacctcgtgtaaacgccagctccatccccattacctgtgcatctgagggt07/03/0310/10/03116Genomicunknown
ss23140713EGP_SNPS|FGF1-075227byFreqrev/BC/Taccctcagatgcacaggtaatggggatggagctggcgtttacacgaggtgacgttgttcc04/22/0404/28/04126Genomicunknown
ss24621983PERLEGEN|afd3321242byFreqfwd/TA/Gggaacaacgtcacctcgtgtaaacgccagctccatccccattacctgtgcatctgagggt08/10/0409/13/04123Genomicunknown
ss65775381ILLUMINA|Human1-rs152524fwd/BA/Gggaacaacgtcacctcgtgtaaacgccagctccatccccattacctgtgcatctgagggt10/10/0610/10/06127Genomicunknown
ss66861199EGP_SNPS|FGF1_075227byFreqrev/BC/Taccctcagatgcacaggtaatggggatggagctggcgtttacacgaggtgacrttgttcc11/09/0612/16/06127Genomicunknown
ss74879541ILLUMINA|ILMN_Human_1M_rs152524fwd/TA/Gggaacaacgtcacctcgtgtaaacgccagctccatccccattacctgtgcatctgagggt08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs152524|allelePos=334|totalLen=624|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 AGCTTGTTCG TGTTGTGTGG GGCAGATCAC GTGAGTTGTG TATCATGCCT GACACAATGG
 ACTACAATCT AAGTTTGCTA ATTTGCAGTG AATATTGCTT ATGTATGCTA TTTAACAAAC
 TAGAGTCTTT TTTTTTTGCC TCATTCTGAC ACCTGTTTTT CACTGAGTAT AAGACATTCA
 GCAAGCCCAT TTGAAGATAA GCCATCAAAA CAAAGCCCAA AAGAGCTAAT TCTGCAGCTG
 CAAGCCCCAG CCTCAGCCTT CCTGCTCCTC ATCTCCAGGG TCTGTGCAGT GGGTGGGGAG
 GAAGGAACAA CGTCACCTCG TGTAAACGCC AGC
 R
 TCCATCCCCA TTACCTGTGC ATCTGAGGGT ACAGCGTGAG CACCAGCGAA GTGGTCATTT
 GTTCTTAGAG CCTGCAACCT CTGGTGCATG GTCCATGAAT AATTAAGACC ACCTGATGTA
 TAAACCATCA TGTCAAAGTG AGTGTTTTGC ATTGCATTTT GAAGCCAGTC CTACAGAAAC
 TTCCTTCCTG CCTGTCTTCT TCTATGTCTC CTGATTTTCC TTCTCTTGAT TTGTGGCAAG
 TTTGACTCTT GAGATTGCTG ACCCTCTAAG CAGGGACTGG ATCTGACTTT

  GeneView back to top
GeneView via analysis of contig annotation: FGF1 fibroblast growth factor 1 (acidic)
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_029289->NM_000800
svfunction
referenceNT_029289->NM_033136
svfunction
referenceNT_029289->NM_033137
svfunction
HuRefNW_001838953->NM_000800
svfunction
HuRefNW_001838953->NM_033136
svfunction
HuRefNW_001838953->NM_033137
svfunction
CeleraNW_922784->NM_000800
svfunction
CeleraNW_922784->NM_033136
svfunction
CeleraNW_922784->NM_033137
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_029289->NM_000800->NP_0007913155316reverseintron
referenceNT_029289->NM_033136->NP_1491273155316reverseintron
referenceNT_029289->NM_033137->NP_1491283155316reverseintron
HuRefNW_001838953->NM_000800->NP_00079113142130forwardintron
HuRefNW_001838953->NM_033136->NP_14912713142130forwardintron
HuRefNW_001838953->NM_033137->NP_14912813142130forwardintron
CeleraNW_922784->NM_000800->NP_00079115701726reverseintron
CeleraNW_922784->NM_033136->NP_14912715701726reverseintron
CeleraNW_922784->NM_033137->NP_14912815701726reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs152524 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
5NW_001838953.213142130137140115minusTalt_assembly_8HuRefHuRefview333
5NW_922784.115701726138073710plusAalt_assembly_1CeleraCeleraview333
5NT_029289.103155316141972573plusAref_assemblyreferencereferenceview333

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_029289 AC010489 AC010489.4 AC016560.6
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC005370.1 AC010489.4 NC_000005.8 AC016560.9 AC091822.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1320171TSC_42_AA 75AF 0.366 0.634
TSC_42_C 84AF 0.583 0.417
TSC_42_A 83AF 0.307 0.693
ss23140713PDR90Global 162IG 0.383 0.420 0.198 0.251 0.593 0.407
ss24621983AFD_EUR_PANELEuropean 48IG 0.292 0.417 0.292 0.439 0.500 0.500
AFD_AFR_PANELAfrican American 46IG 0.217 0.435 0.348 0.584 0.435 0.565
AFD_CHN_PANELAsian 48IG 0.167 0.417 0.417 0.655 0.375 0.625
ss5578040HapMap-CEUEuropean 116IG 0.448 0.362 0.190 0.655 0.629 0.371
HapMap-HCBAsian 90IG 0.156 0.511 0.333 1.000 0.411 0.589
HapMap-JPTAsian 88IG 0.159 0.386 0.455 0.273 0.352 0.648
HapMap-YRISub-Saharan African 118IG 0.034 0.610 0.356 0.005 0.339 0.661
ss66861199HSP_GENO_PANEL 118IG 0.458 0.407 0.136 0.479 0.661 0.339
CEU_GENO_PANELEuropean 120IG 0.433 0.367 0.200 0.100 0.617 0.383
AAM_GENO_PANELAfrican American 122IG 0.148 0.475 0.377 1.000 0.385 0.615
CHB_GENO_PANELAsian 90IG 0.156 0.511 0.333 0.752 0.411 0.589
YRI_GENO_PANELSub-Saharan African 120IG 0.033 0.617 0.350 0.005 0.342 0.658
JPT_GENO_PANELAsian 90IG 0.156 0.400 0.444 0.403 0.356 0.644

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.498+/-0.0295454732180

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNYES

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Revised: May 25, 2006 1:38 PM .