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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs473351          
refSNP ID: rs473351
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C/G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_003742.2:c.*236A>C
NM_003742.2:c.*236A>G
NM_003742.2:c.*236A>T
NT_005403.16:g.19989314T>A
NT_005403.16:g.19989314T>C
NT_005403.16:g.19989314T>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 ss2873330 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs473351 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
ss642738SC_JCM|AC069165.2_60929fwd/TA/Gatacagaaaatgaaagaaactagggtccattgagggaaaacccaatgtcaagtggcagct07/27/0010/10/0383Genomicunknown
ss1135789KWOK|OVLP-000804-387530fwd/TA/Gatacagaaaatgaaagaaactagggtccattgagggaaaacccaatgtcaagtggcagct09/02/0010/10/0386Genomic99 %
ss2873330TSC-CSHL|TSC0407279byFreqfwd/TA/Gatacagaaaatgaaagaaactagggtccattgagggaaaacccaatgtcaagtggcagct01/03/0110/25/0692Genomicunknown
ss4918030YUSUKE|IMS-JST085520byFreqrev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat07/24/0210/10/03108Genomicunknown
ss5603047RIKENSNPRC|ssj0000161fwd/TA/Gatacagaaaatgaaagaaactagggtccattgagggaaaacccaatgtcaagtggcagct10/18/0210/10/03110Genomicunknown
ss5841362SC_JCM|NT_005332.10_1830809rev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat01/10/0310/10/03111Genomicunknown
ss14473041WUGSC_SSAHASNP|chr2.NT_005403.14_19989313rev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat11/05/0311/22/03119Genomicunknown
ss14742112SC_SNP|NT_005403.14_19989313rev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat11/12/0311/22/03119Genomicunknown
ss19416792CSHL-HAPMAP|CSHL-HuDD-200402.chr2.NT_005403.14_19989313rev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat02/20/0403/04/04120Genomicunknown
ss24628801PERLEGEN|afd4541716byFreqrev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat08/10/0409/13/04123Genomicunknown
ss24811568SEQUENOM|sqnm198961fwd/TC/Tatacagaaaatgaaagaaactagggtccattgagggaaaacccaatgtcaagtggcagct06/18/0406/18/04123cDNAunknown
ss35149225SSAHASNP|TA-079.chr2_169605403rev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat03/11/05125Genomicunknown
ss44217469ABI|hCV8813544byFreqrev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat07/18/0511/03/06126Genomicunknown
ss75246711ILLUMINA|ILMN_Human_1M_rs473351fwd/TA/Gatacagaaaatgaaagaaactagggtccattgagggaaaacccaatgtcaagtggcagct08/28/0708/29/07129Genomicunknown
ss76869057CGM_KYOTO|720434rev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat09/12/0709/12/07129cDNAunknown
ss81921133HGSV|Cor18555_SNV_20070510.chr2_169605403rev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat11/27/0712/01/07130Genomicunknown
ss86353295CNG|19489820rev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat02/22/0802/22/08129Genomicunknown
ss91433407BCMHGSC_JDW|JWB-1339844rev/BC/Tagctgccacttgacattgggttttccctcaatggaccctagtttctttcattttctgtat02/26/0803/01/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs473351|allelePos=255|totalLen=1151|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=130
 TGGATCCCCC ATCAGTTGAC CCAATGCAAG AATCTCAGAC ACACATGACG CACCAGTTAC
 AGGGGTTGTT TTTAAAGAAA AAAACAATCC CAGCAGGAGG GATTGCTGGG ATTGTTTTTT
 CTTTAAAGAA GAATGTTAAT ATTTTACTTT TACAGTCATT TTCCTACATC GGAATCCAAG
 CTAATTTCTA ATGGCCTTCC ATAATAATTC TGCTTTAGAT GTGTATACAG AAAATGAAAG
 AAACTAGGGT CCAT
 N
 TGAGGGAAAA CCCAATGTCA AGTGGCAGCT CAGCCACCAC TCAGTGCTTC TCTGTGCAGG
 AGCCAGTCCT GATTAATATG TGGGAATTAG TGAGACATCA GGGAGTAAGT GACACTTTGA
 ACTCCTCAAG GACAGAGAAC TGTCTTTCAT TTTTGAACCC TCGGTGTACA CAGAGGCGGG
 TCTGTAACAG GCAATCAACA AACGTTTCTT GAGCTAGACC AAGGTCAGAT TTGAAAAGAA
 CAGAAGGACT GAAGACCAGC TGTGTTTCTT AACTAAATTT GTCTTTCAAG TGAAACCAGC
 TTCCTTCATC TCTAAGGCTA AGGATAGGGA AAGGGTGGAT GCTCTCAGGC TGAGGGAGGC
 AGAAAGGGAA AGTATTAGCA TGAGCTTTCC AGTTAGGGCT GTTGATTTAT GCTTTAACTT
 CAGAGTGAGT GTAGGGGTGG TGATGCTACC ATTACTGTGA GGACCTACCA GTGTGGCTGG
 AGCAGGGACT CTCTCCCAGG CCTTTTACTC CTCAGCACCT CCCTGCATAC TGATTGTTGT
 TTTTAGTTTC TGTGAAATTA TATTCATGAA ATGAAAATAG CGCATTTTAC TTTGCTGTAG
 TTTCATAAGG TTTTATACAA AAAAGCAAGT AAATATGGCA GAAAAGCACT CATTTGCCCC
 TGCTCCCTCA AAACACCACA GAATGACATA GAACTAAAGG CGGCAGGAAT CTACAAGAAT
 GAAGAAAACA CAGTGATGCT ACCTGCAAAA TCTTGGGAGC CAGAAAGCAA ATGGACAATT
 GATAATAGAG TTACAAGATG AGAGAAAACA AAAATGTAAC CTGTTAGTTG GGGGAGCCTA
 GAAACATCCT GTTTTGTACC ACAGACCCCT AGAAAGTTTC AAGATGTAAA AACACT

  GeneView back to top
GeneView via analysis of contig annotation: ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
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_005403->NM_003742
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_005403->NM_003742->19989314reverse43283' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs473351 maps exactly once on NCBI human chromosome 2
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
2NW_001838860.119986973161676428minusTalt_assembly_8HuRefHuRefview254
2NW_921585.137595020163405217minusCalt_assembly_1CeleraCeleraview254
2NT_005403.1619989314169488142minusTref_assemblyreferencereferenceview254

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
sqnm198961 NT_005403.15 AC069137 AC069165.2
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):
NM_003742.2
UniGene Cluster ID
158316

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss24628801AFD_EUR_PANELEuropean 40IG 0.300 0.400 0.300 0.371 0.500 0.500
AFD_AFR_PANELAfrican American 44IG 0.091 0.545 0.364 0.403 0.364 0.636
AFD_CHN_PANELAsian 42IG 0.143 0.857 0.752 0.071 0.929
ss2873330HapMap-CEUEuropean 120IG 0.167 0.533 0.300 0.527 0.433 0.567
HapMap-HCBAsian 90IG 0.089 0.911 1.000 0.044 0.956
HapMap-JPTAsian 90IG 0.133 0.867 0.655 0.067 0.933
HapMap-YRISub-Saharan African 118IG 0.034 0.441 0.525 0.251 0.254 0.746
ss44217469AoD_African_American 90AF 0.320 0.680
AoD_Caucasian 92AF 0.400 0.600
AoD_Chinese 90AF 0.010 0.990
AoD_Japanese 90AF 0.040 0.960
ss4918030JBIC-allele 1452AF 0.049 0.951

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.366+/-0.22233226090

  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 .