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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs254274          
refSNP ID: rs254274
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_015629.2:c.855+905G>A
NT_011109.15:g.26897130G>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 ss1685849 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs254274 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
ss76391TSC-CSHL|TSC0019016rev/BC/Tggccgtgagcctgaggtaactcgccacagtggacagagcagggtctggacccaggcctgt09/06/0010/10/0392Genomic95 %
ss330608KWOK|OVLP-000621-54065rev/BC/Tggccgtgagcctgaggtaactcgccacagtggacagagcagggtctggacccaggcctgt06/30/0010/10/0379Genomic99 %
ss792510SC_JCM|AC012314.5_92285rev/BC/Tggccgtgagcctgaggtaactcgccacagtggacagagcagggtctggacccaggcctgt07/27/0010/10/0387Genomicunknown
ss888081KWOK|OVLP-000804-88724fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc09/01/0010/10/0386Genomic99 %
ss1685849KWOK|OVLP-000925-286288byFreqfwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc10/05/0010/25/0687Genomic99 %
ss5459255TSC-CSHL|TSC0160775fwd/TA/Ggacaggcctggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc09/21/0210/10/03108Genomicunknown
ss6287733SC_JCM|NT_011148.11_994560fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc01/10/0310/10/03111Genomicunknown
ss6634262WI_SSAHASNP|NT_011225.10_413320fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc02/12/0310/10/03111Genomicunknown
ss10934670BCM_SSAHASNP|chr19.NT_011109.15_26897130fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc06/30/0311/10/03116Genomicunknown
ss19406819CSHL-HAPMAP|CSHL-HuDD-200402.chr19.NT_011109.15_26897130fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc02/20/0403/04/04120Genomicunknown
ss20070408CSHL-HAPMAP|CSHL-HuFF-200402.chr19.NT_011109.15_26897130fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc02/21/0403/04/04120Genomicunknown
ss21518704SSAHASNP|WGSA-200403-chr19.chr19.NT_011109.15_26897130fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc03/20/0403/20/04121Genomicunknown
ss44159709ABI|hCV2414406fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc07/18/0507/18/05126Genomicunknown
ss66138628AFFY|SNP_A-2096431byFreqfwd/TA/Gagaccctgctctgtccactgtggcgagttacc10/27/0608/14/07127Genomicunknown
ss76153722AFFY|AFFY_6_1M_SNP_A-2096431fwd/TA/Gagaccctgctctgtccactgtggcgagttacc08/28/0708/30/07129Genomicunknown
ss83521998HGSV|Cor18555_SNV_20070510.chr19_59320752fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc11/27/0712/05/07130Genomicunknown
ss83824437HGSV|Cor18956_SNV_20070510.chr19_59320752fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc11/30/0712/05/07130Genomicunknown
ss84342346HGSV|Cor19240_SNV_20070510.chr19_59320752fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc11/30/0712/07/07130Genomicunknown
ss91009526BCMHGSC_JDW|JWB-1182890fwd/TA/Gacaggcctgggtccagaccctgctctgtccactgtggcgagttacctcaggctcacggcc02/26/0803/01/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs254274|allelePos=844|totalLen=1044|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CAGCCTGAGC AGCCACCCAC CATCTGGCCC AGCTGACGGT AGCACTCAGG AGCTGGGAAC
 AGGGTGGCAT GGGACGTGAG AGCCAGGGCT CTGCAGCAGA ccagctccag cacccaccag
 tcaggtgact gtgggcaaga ggcatgagcg ccctgtgcct cagtctcctc ccctatcaaa
 tgggagcaca gcgcctgctt catgagttgg gacgagggct cagtgcacat gaagcactta
 cagttcaggc ctagctcacg acaagcAGCG TCGGGTTAGC GTGCAACTGC Tccgaagacc
 accctcaggt ttgaccattc actagaaaga ctcacagaat ccaCTGAGGG CTGCACATCA
 GCCATGGGGA GAGACACACA GGAGGGGCAG GAGAGGTCAC CAACCTCGGA GCTTCCCGGG
 TCCTCTCCCT GCAGTCGGGA CACATCACCA TCCCAGCATC GACGCCTGAC AGCACACACA
 CAGGCCCGCT AGCCTggcgg ggcgcagtgg ctcgtgcctg tcatcccagc actttgggag
 gccgaggcgg gcagatcacc tgaggtcagg tgttcgagac cagcctggcc aacatggtga
 aaccccatct ctaccaaaaa tacaaaaaac tagctgggta tagtggcaca cacttataat
 cccagctact tgggaggctg aggcaggaga atcgcttgaa cccaggaggt ggaggttgca
 gtgagctaag atcataccac tgccctccag cctgggtgac agagtgagac tctgtctcaa
 aaaaaaaaaa aaaCAAGACA GGTTCTGGGA CAGACAGGCC TGGGTCCAGA CCCTGCTCTG
 TCC
 R
 ACTGTGGCGA GTTACCTCAG GCTCACGGCC CTGTGCCCTG CCTGGCCTCC CCCAGGGATG
 GGGAGAACAA TAGCACTGAT GGCCAAGGCT GGGCAGGCAC TTCCTGGCCC CACCCCCCAG
 CCCTGTGTGG GGTTTTTTTT GTGGTCTTTT CTGCGACCCT TTAGGTCAGG CACTGCTACT
 GGAACACACC CAGGGAGGCT

  GeneView back to top
GeneView via analysis of contig annotation: PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
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_011109->NM_015629
svfunction
HuRefNW_001838498->NM_015629
svfunction
CeleraNW_927284->NM_015629
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011109->NM_015629->NP_05644426897130forwardintron
HuRefNW_001838498->NM_015629->NP_0564441320734reverseintron
CeleraNW_927284->NM_015629->NP_0564443976289forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs254274 maps exactly once on NCBI human chromosome 19
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
19NW_001838498.2132073450945172minusTalt_assembly_8HuRefHuRefview843
19NW_927284.1397628951669005plusAalt_assembly_1CeleraCeleraview843
19NT_011109.152689713059320752plusGref_assemblyreferencereferenceview843

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011148.11 AC009968 AC012314.5
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC012314.8 NC_000019.8 AC009968.6

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1685849HapMap-CEUEuropean 120IG 0.817 0.167 0.017 0.584 0.900 0.100
HapMap-HCBAsian 90IG 0.533 0.378 0.089 0.752 0.722 0.278
HapMap-JPTAsian 90IG 0.489 0.400 0.111 0.689 0.311
HapMap-YRISub-Saharan African 120IG 0.383 0.433 0.183 0.479 0.600 0.400
ss66138628HapMap-CEUEuropean 118GF 0.814 0.169 0.017 0.898 0.102
HapMap-HCBAsian 90GF 0.533 0.378 0.089 0.722 0.278
HapMap-JPTAsian 90GF 0.489 0.400 0.111 0.689 0.311
HapMap-YRISub-Saharan African 120GF 0.383 0.433 0.183 0.600 0.400

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.394+/-0.2042702102690

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .