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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs207961          
refSNP ID: rs207961
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:C/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_013272.2:c.1009+5832C>G
NT_010274.16:g.7619131C>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 ss1632099 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs207961 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
ss272231KWOK|OVLP-000621-170822fwd/BC/Gaccttaaagcaagaggcagtaacttgatcaatgtgttctgaaaagatcacagcatggaca06/30/0010/10/0379Genomic97 %
ss1257778KWOK|OVLP-000804-596367fwd/BC/Gaccttaaagcaagaggcagtaacttgatcaatgtgttctgaaaagatcacagcatggaca09/02/0010/10/0386Genomic97 %
ss1314879TSC-CSHL|TSC0154961byFreqfwd/BC/Gaccttaaagcaagaggcagtaacttgatcaatgtgttctgaaaagatcacagcatggaca09/06/0004/07/0486Genomic95 %
ss1632099KWOK|OVLP-000925-137718byFreqfwd/BC/Gaccttaaagcaagaggcagtaacttgatcaatgtgttctgaaaagatcacagcatggaca10/04/0010/25/0687Genomic97 %
ss4040300SC_JCM|AX081181.1_11952fwd/BC/Gaccttaaagcaagaggcagtaacttgatcaatgtgttctgaaaagatcacagcatggaca09/26/0110/10/03100Genomicunknown
ss5462328TSC-CSHL|TSC0189304fwd/BC/Gaccttaaagcaagaggcagtaacttgatcaatgtgttctgaaaagatcacagcatggaca09/21/0210/10/03110Genomicunknown
ss10773979BCM_SSAHASNP|chr15.NT_010274.15_7619131rev/TC/Gtgtccatgctgtgatcttttcagaacacattgatcaagttactgcctcttgctttaaggt06/30/0310/10/03116Genomicunknown
ss24665584PERLEGEN|afd2558463byFreqrev/TC/Gtgtccatgctgtgatcttttcagaacacattgatcaagttactgcctcttgctttaaggt08/10/0409/13/04123Genomicunknown
ss43701046ABI|hCV2271353rev/C/Gtgtccatgctgtgatcttttcagaacacattgatcaagttactgcctcttgctttaaggt07/18/0507/18/05126Genomicunknown
ss75927005AFFY|AFFY_6_1M_SNP_A-1783247fwd/C/Gggcagtaacttgatcaatgtgttctgaaaaga08/28/0708/29/07129Genomicunknown
ss78196439HGSV|Cor12878_SNV_20070510.chr15_90454608rev/C/Gtgtccatgctgtgatcttttcagaacacattgatcaagttactgcctcttgctttaaggt10/17/0710/18/07129Genomicunknown
ss90253370BCMHGSC_JDW|JWB-0894360rev/C/Gtgtccatgctgtgatcttttcagaacacattgatcaagttactgcctcttgctttaaggt02/26/0802/29/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs207961|allelePos=574|totalLen=774|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=129
 CCAACACAGG TAGTCACATG TGGGCTGGTG GTGGCACTCA GGACACCTGA AGCTCTTGCC
 AAGTCTACGT CCATGGATTG GTCAAACACA GGCCAAAACC CTGAGTGGGA AGTAGGGGGC
 AGGGGAGCTT TAGGGAAAGC GGCAATCCAT TTACTCCCTC Ccctatcaca tagcaggcac
 tgagcacctg ctgtgtacca ggacatgaga aaaaacaact gcagtccctg ccttcatgaa
 gcgtacagag taagtgaata aaggacaatt attcacacat ataaaggaaa attatgatgt
 gccttggaag gggtaccacc aggtcaggaa gatgttccta agaaatgaca catgagctga
 tgtctgaaga tgaaatgaga attccagTAG AGGGAACGAA TGCAGAGTCC TAGGAGGAAA
 GGAGCCTGGG GTATAGGGAG AACTGAAAAG AGACCAGTGA GGTGGGCGTG GAGGGAACAG
 GGCATGACTG GCATGAGAAG GGTTTGGAGG GACTCAGAGA CCATGGAAGG ACTTTGTCTC
 CATACCTTAA AGCAAGAGGC AGTAACTTGA TCA
 S
 ATGTGTTCTG AAAAGATCAC AGCATGGACA ACAGCCTGGA GGGCCCAGGG CATGCTGGAG
 TGTGGAGTGT TACCTTGTTA ATGTTAACAA GGACTCTCAG ATCAACAGAG ATCAAGGGCA
 GGCTGGAGAG AGACTTGGGT GGCAAAATCA GCTGAACTCC AGGATGGACT GCATTGCTGG
 AGGGGAGGGG AGGTTACAAG

  GeneView back to top
GeneView via analysis of contig annotation: SLCO3A1 solute carrier organic anion transporter family, member 3A1
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_010274->NM_013272
svfunction
HuRefNW_001838222->NM_013272
svfunction
CeleraNW_925940->NM_013272
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010274->NM_013272->NP_0374047619131forwardintron
HuRefNW_001838222->NM_013272->NP_0374047644837forwardintron
CeleraNW_925940->NM_013272->NP_0374047558392forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs207961 maps exactly once on NCBI human chromosome 15
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
15NW_001838222.1764483768792874minusCalt_assembly_8HuRefHuRefview573
15NW_925940.1755839269065572minusCalt_assembly_1CeleraCeleraview573
15NT_010274.16761913190454608minusCref_assemblyreferencereferenceview573

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010274 AC005319 AC068012 AC068012.1
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC005319.1 AC113190.8 NC_000015.8 AC135631.2 AC135719.2 AC136685.2 AC136691.2

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss1314879WICGR6_caucasian_pooled 96AF 0.210 0.790
ss1632099HapMap-CEUEuropean 120IG 0.033 0.533 0.433 0.050 0.300 0.700
HapMap-HCBAsian 88IG 0.023 0.364 0.614 0.439 0.205 0.795
HapMap-JPTAsian 90IG 0.044 0.333 0.622 0.211 0.789
HapMap-YRISub-Saharan African 120IG 0.033 0.433 0.533 0.251 0.250 0.750
ss24665584AFD_EUR_PANELEuropean 44IG 0.045 0.455 0.500 0.527 0.273 0.727
AFD_AFR_PANELAfrican American 44IG 0.364 0.636 0.317 0.182 0.818
AFD_CHN_PANELAsian 48IG 0.083 0.292 0.625 0.403 0.229 0.771

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.367+/-0.22133226090

  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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .