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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs163084          
refSNP ID: rs163084
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/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_144713.2:c.1714-3209G>A
NT_022184.14:g.17106849G>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 ss1896076 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs163084 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
ss302849KWOK|OVLP-000621-326749rev/TA/Ggatatgaacagacacttctcatactgtagcttttgcactttcccaagcaatgtatgaaag06/30/0010/10/0379Genomic97 %
ss428623KWOK|OVLP-000621-321560rev/TA/Ggatatgaacagacacttctcatactgtagcttttgcactttcccaagcaatgtatgaaag06/30/0010/10/0379Genomic99 %
ss1108859KWOK|OVLP-000804-246639rev/TA/Ggatatgaacagacacttctcatactgtagcttttgcactttcccaagcaatgtatgaaag09/02/0010/10/0386Genomic99 %
ss1222588KWOK|OVLP-000804-248227fwd/BC/Tctttcatacattgcttgggaaagtgcaaaagctacagtatgagaagtgtctgttcatatc09/02/0010/10/0386Genomic97 %
ss1896076KWOK|OVLP-000925-356900byFreqrev/TA/Ggatatgaacagacacttctcatactgtagcttttgcactttcccaagcaatgtatgaaag10/06/0008/14/0787Genomic99 %
ss1954753KWOK|OVLP-000925-358834fwd/BC/Tctttcatacattgcttgggaaagtgcaaaagctacagtatgagaagtgtctgttcatatc10/06/0010/10/0387Genomic97 %
ss21669015SSAHASNP|WGSA-200403-chr2.chr2.NT_022184.13_17106849rev/TA/Ggatatgaacagacacttctcatactgtagcttttgcactttcccaagcaatgtatgaaag03/20/0403/20/04121Genomicunknown
ss41691672ABI|hCV1879014rev/TA/Ggatatgaacagacacttctcatactgtagcttttgcactttcccaagcaatgtatgaaag07/17/0507/17/05126Genomicunknown
ss66339531AFFY|SNP_A-1942580byFreqfwd/BC/Tttgggaaagtgcaaaagctacagtatgagaag10/29/0608/14/07127Genomicunknown
ss76042733AFFY|AFFY_6_1M_SNP_A-1942580fwd/BC/Tttgggaaagtgcaaaagctacagtatgagaag08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs163084|allelePos=840|totalLen=2684|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 AAAGGGGAGT GAGTTTTGTC GCACCTGCTT CTCAGCACTG ATGATCTCTT CACCTTCTCC
 ATGACTCAGT TTTCAATTGG TACTCTTGAA GTCTAACCTG tttctttctt tctttttttt
 tttgagatgg agtctcgctc tgtcacccag gctggagtgc catggtatga tctcagctca
 ctgcaacctc cgcctcccag gttcaagtga ttctcctgtc tcagcccccc gagtagctgg
 gactacaggc atacaccacc atgtctggct aatttttgta tttttagtag acacgaggtt
 tcaccatgtt ggttaggcta gtctcaaact cctgatctac ccgcctcgga ctcccaaagt
 actgggatta caggtgtgaa ccaatgcacc cggccCCTAA TCTCAGTTTC TTCTCTTTGC
 TTACAAATTG AGCTTATTCA AGGTTTTTAG GTTTCTGCTT AGTCACTATG AAGAAAGCAG
 AAATGCCAAC TCAATGGCTT CCAATTTTTT AAACCATAGC CTCACAGTAT GCAATATATT
 TTACATGATT TAGTACATAT CTCTACATGT GATTGTGTGT ACTTCATAGA TATATATTTA
 TGTATGTATA TATacacaca cacacataca cacacacaaa caGGATTCAC TATTGTTTTC
 TGTGATGGaa tatattttta aatttttttC ATAAgaaatg cagcacagtg aaatactact
 acaaacctat catagtggct aaatttttaa aaaaatgaca aaactgataa catataccaa
 gtattgggga ggatgtgaaa ctactggaac tttcatacat tgcttgggaa agtgcaaaa
 Y
 gctacaGTAt gagaagtgtc tgttcatatc cttcgcccac tttttgatgg ggttgtttgt
 ttttttcttg taaatttgtt tgagttcatt gtagattctg gatattagcc ctttgtcaga
 tgagtaggtt gcaaaaattt tctcccattc tgtaggttgc ctgttcactc tgatggtagt
 ttcttttgct gtgcagaagc tctttagttt aattagatcc catttgtcaa ttttggcttt
 tgttgccatt acttttggtg ttttagacat gaagtccttg cccatgccta tgtcctgaat
 ggtattgcct aagttttctt ctagggtttt tatggtttta ggtctaacat ttaagtcttc
 aatccatctt gaattaaaaa cacatgaaaa aatgctcatc atcactggcc atcagagaaa
 tgcaaatcaa aaccacaatg agataccatc tcacaccagt tagaatggcg atcattaaaa
 agtcaggaaa caacaggtgc tggagaggat gtggagaaat aggaacactt ttacactgtt
 ggtgggactg taaactagtt caaccgttgt agaagtcagt gtggcgattc ctgagggatc
 tagaactaga aataccattt gacccagcaa tcccattact gggtatatac ccaaaggatt
 ataaatcatg ctgctataaa gacacatgca catgtatgtt tatagtggca ctattcacaa
 tagcaaagac ttggaaccaa cccaaatgtc caacaacgat agactggatt aagaaaatat
 ggcacatata caccatggaa tactatgcaa ccataaaaaa tgatgagttc atgtcctttg
 tagggacatg gatgaaactg taaaccatca ttctcagcaa actatggcag ggacaaaaaa
 ccaaacaccg catgttctca ctcataggtg ggaattgaac aatgagaaca catgcacaca
 ggaaggggaa catcacacac tggggactgt tgtggggggg gggaaggggg gagggatagc
 atttggagat atacctaatg ctaaatgaca agttaatggg tgcagcacac caacatggta
 catgtataca tatgtaacaa acctgcacat tgtgcacatg taccctaaaa cttaaagtat
 aataataata aaattaaaaa aaaatgctac agtatgaccc cactcctggg tatttatcct
 agagaaatga aaacacattc acacaaaagc tatacatgaa tgtttacagc agctgcattc
 atcatgactt catactgaaa acaacctaaa tttccttcaa agggcaatta gttatacaaa
 atctgttaca tccacccaat ggaatactac tcggtaataa aaaagaatga accattgata
 cacacaacaa cttgaatgaa tctcaaggga attatgttga gtaaaataag tcagcttcaa
 aaggttacac actgcacaat tccattgcta cgacagcctc tgagagacaa aagtgtcatg
 atgaagagta gatcagtggt tgtcgagggt taaaggggag ggagagtact acaaaaggat
 agcctggtgg agttttggaa ggttttctga ttgtgacagt ggttacatgg atgtatacat
 gtgttaaaat tcacacaact aCACCAAAAA GTGATGAAAA GTGATTGGAA AAAATGTTAA
 AGGGGAATTG GTGCAAATGA ACTTAAGTGA AGCTGAACTG ACATTGGCAG GTAGCATGGC
 AGCTGCTGGC AGACAAGGAA ACGAGATGGC AACACTGAAC AAAGAAGGTC AGGCCTAGAG
 ATGTGAACAA GGATCATGGC CTGTGCTGAA GTCCTTGCAG GAGA

  GeneView back to top
GeneView via analysis of contig annotation: FAM82A1 family with sequence similarity 82, member A1
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_022184->NM_144713
svfunction
HuRefNW_001838769->NM_144713
svfunction
CeleraNW_927719->NM_144713
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_022184->NM_144713->NP_65331417106849forwardintron
HuRefNW_001838769->NM_144713->NP_6533148127101forwardintron
CeleraNW_927719->NM_144713->NP_65331438063735forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs163084 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_001838769.1812710138030857minusAalt_assembly_8HuRefHuRefview839
2NW_927719.13806373538131800minusAalt_assembly_1CeleraCeleraview839
2NT_022184.141710684938144420minusGref_assemblyreferencereferenceview839

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022184 AC011074.4 AC016689.2
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC009229.5 NC_000002.10 AC011074.5

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss1896076HapMap-CEUEuropean 118IG 0.627 0.305 0.068 0.780 0.220
HapMap-HCBAsian 90IG 0.933 0.067 0.967 0.033
HapMap-JPTAsian 90IG 0.978 0.022 0.989 0.011
HapMap-YRISub-Saharan African 120IG 0.750 0.217 0.033 0.858 0.142
ss66339531HapMap-CEUEuropean 118GF 0.627 0.305 0.068 0.780 0.220
HapMap-HCBAsian 90GF 0.933 0.067 0.967 0.033
HapMap-JPTAsian 90GF 0.978 0.022 0.989 0.011
HapMap-YRISub-Saharan African 120GF 0.750 0.217 0.033 0.858 0.142

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.200+/-0.2452702102690

  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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .