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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4305350          
refSNP ID: rs4305350
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_058186.3:c.288-2315T>C
NM_206964.1:c.144-2315T>C
NT_011512.10:g.28375958T>C
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 ss10989216 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4305350 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
ss5706082SC_JCM|NT_011512.6_28288038fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt01/10/0310/10/03111Genomicunknown
ss7897457DEVINE_LAB|DB_1_337786fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt03/16/0310/10/03113Genomic96 %
ss10989216BCM_SSAHASNP|chr21.NT_011512.8_28374924byFreqfwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt06/30/0310/25/06116Genomicunknown
ss67325393ILLUMINA|HumanHap550v1.1_rs4305350fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt11/14/0611/14/06127Genomicunknown
ss67727623ILLUMINA|HumanHap650Yv1.0_rs4305350fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt11/14/0611/14/06127Genomicunknown
ss68227332ILLUMINA|HumanHap250Sv1.0_rs4305350fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt12/06/0612/07/06127Genomicunknown
ss70799179ILLUMINA|HumanHap550v3.0__rs4305350fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt04/20/0703/30/08130Genomicunknown
ss71377773ILLUMINA|HumanHap650Yv3.0_rs4305350fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt04/23/0704/23/07127Genomicunknown
ss74834753AFFY|SNP_M-592191fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt08/09/0708/09/07128Genomicunknown
ss75595797ILLUMINA|ILMN_Human_1M_rs4305350fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt08/28/0708/29/07129Genomicunknown
ss76473881AFFY|AFFY_6_1M_SNP_A-8334838fwd/BC/Tttcagcacattcaaggactattccactgtctt08/28/0708/30/07129Genomicunknown
ss84247566KRIBB_YJKIM|KHS667292fwd/BC/Tagccattactttctttcagcacattcaaggactattccactgtcttctaggttctatatt12/04/0712/06/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4305350|allelePos=323|totalLen=1332|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GATTCTCACA ACTAGCCTCA AATTCAGTGA TACTCTAGAA AAATTCCTAA GACCCAATAA
 CAGGTTACAC TTATAGGTAA GTTTTCTTAC AGCAAAAGAC ACAGAGCAAA CCCTCCTGCA
 TGTtctgctg atggtgaatt cttccagttt atgtttctct gaaatatctt tacttcacct
 tcatacctga aaaatagtgt ggtctgctga tagtgaatct ttccagttta cgtttctctg
 aaatatcttt atttcatctt tgttcctgaa aaatactttt gtaggctgtg ttagccatta
 ctttctttca gcacattcaa gg
 Y
 actattccac tgtcttctag gttctatatt ttccttttga gaagtcagct gacagtctta
 ttgtcgctgc tgtgaaagta actgcccatt gccctcgtcc ccgtcacctt agagattcct
 tgtctggttt tcaacatttg tactccaatg tgtcttttgt tgttttatct tctttggagt
 ttttttgagt ttcttaaatt ggtaggtatt gaagtctttc atcaaattta acaaattctc
 tgctcttgta tcttctgccc attcactttc tcctcttctt ctgagattct taatgaaaca
 tatattagac cttatcacta ctatagtctc tagagcctat agtctatttt gtattttcca
 tttgtttacc tctctgctct ttatcatgga cagagttgtt ttccattcac taattctctc
 acccactgta cctaatctgc tgtcaaaccc attcaatcac tactgatttt aggttactat
 attatcttag ttttagaaat tcattctggt tctttttaaa atcagcatgt cagttttggt
 acttttcagt tctgaaattt ttaattttat caaccatgtt tttgaataca ttatagttaa
 agtctgagtt ggataactct agcatttaga gtgcctgtga gtctgtcact attatctact
 gttttctgct ggttccattg tctcttgtgt gcgttggcct ttttcctcac gtgtCAGGTT
 TCATTTGATC CTGCACCTGT TTTTTAAAAA AATTGAGGCA TGggaTGATA TCTTCTTCTG
 AGGAATTATC TTTGCTTCTC CCAGGGACCT GGAACCTTTA GCAGAACAGG ATGACCTGAA
 TAAGTGTTAA AGATTTTCTG GGCCACCTAG TTGACTAAAA ACTAGGCTGA AGTTTATACA
 AGCTCTGATT TTTTTCTGGT TTGCTCTCAC TTTCAGGATT CAACCCTTTG TGACCCCAGG
 CCAAATAAGA TGTGGGAGAT TTAACATGGC CCTGACCCTG GCTTCCAAC

  GeneView back to top
GeneView via analysis of contig annotation: FAM3B family with sequence similarity 3, member B
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_011512->NM_058186
svfunction
referenceNT_011512->NM_206964
svfunction
HuRefNW_001838710->NM_058186
svfunction
HuRefNW_001838710->NM_206964
svfunction
CeleraNW_927384->NM_058186
svfunction
CeleraNW_927384->NM_206964
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011512->NM_058186->NP_47806628375958forwardintron
referenceNT_011512->NM_206964->NP_99684728375958forwardintron
HuRefNW_001838710->NM_058186->NP_478066242439reverseintron
HuRefNW_001838710->NM_206964->NP_996847242439reverseintron
CeleraNW_927384->NM_058186->NP_47806627397445forwardintron
CeleraNW_927384->NM_206964->NP_99684727397445forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4305350 maps exactly once on NCBI human chromosome 21
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
21NW_927384.12739744527912322plusTalt_assembly_1CeleraCeleraview322
21NW_001838710.224243928182987minusAalt_assembly_8HuRefHuRefview322
21NT_011512.102837595841635958plusTref_assemblyreferencereferenceview322

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011512.6
dbSNP Blast Analysis
GenBank HTGS Finished:
AC004508.1 AL773574.1 AL773578.1 NC_000021.7

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss10989216HapMap-CEUEuropean 118IG 0.136 0.864 0.584 0.068 0.932
HapMap-HCBAsian 88IG 1.000 1.000
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.033 0.183 0.783 0.251 0.125 0.875

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.105+/-0.20427021000

  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_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .