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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1296715          
refSNP ID: rs1296715
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:87/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_001079846.1:c.798+15703G>A
NM_004380.2:c.798+15703G>A
NT_037887.4:g.3824596C>T
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 ss2066087 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1296715 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
ss2066087KWOK|OVLP-000925-267054byFreqfwd/TA/Gttggacaaatgtataatgatgtgcatcatttagtgtcatgcagagtattttcactgccct10/07/0010/25/0687Genomic94 %
ss3560275SC_JCM|AC007151.2_24241rev/BC/Tagggcagtgaaaatactctgcatgacactaaatgatgcacatcattatacatttgtccaa09/24/0110/10/03111Genomicunknown
ss10823800BCM_SSAHASNP|chr16.NT_010552.13_1226021rev/BC/Tagggcagtgaaaatactctgcatgacactaaatgatgcacatcattatacatttgtccaa06/30/0310/10/03116Genomicunknown
ss21334328SSAHASNP|WGSA-200403-chr16.chr16.NT_010552.13_1226021rev/BC/Tagggcagtgaaaatactctgcatgacactaaatgatgcacatcattatacatttgtccaa03/19/0403/19/04121Genomicunknown
ss77779874HGSV|Cor12156_SNV_20070510.chr16_3824596rev/BC/Tagggcagtgaaaatactctgcatgacactaaatgatgcacatcattatacatttgtccaa10/09/0710/14/07129Genomicunknown
ss85879172HGSV|Cor19129_SNV_20070510.chr16_3824596rev/BC/Tagggcagtgaaaatactctgcatgacactaaatgatgcacatcattatacatttgtccaa12/06/0712/10/07130Genomicunknown
ss90291897BCMHGSC_JDW|JWB-0909495rev/BC/Tagggcagtgaaaatactctgcatgacactaaatgatgcacatcattatacatttgtccaa02/26/0802/29/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1296715|allelePos=3931|totalLen=8931|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TATTTTCTGT AACACAAACG GAATGAATGT TTAGCATAAT AACAACAATG AAGATTTTCA
 TTTGACATGT CTCCCAGGGG ACCATCTTGA AGAGTAACTT aggcatgtgt cacttgatgg
 gggtgaaatg catcattaag tgattatgtt atgctaggaa catcatagag tagttatgca
 aacctagatg gcatagcctg ttacacacct aggctatata gtgtaccctg ttgctcctgg
 actataaatc tgtacatcat gttactgtaa tgcatacttg ggcagttgta acacggtgcc
 acaatgctaa gtgtttataa acctaaacat ttctatacat agaaatggta tagtagaaaa
 tactgtataa aagatttaaa atagtacacc tgACCAGACA CTCAGTccca tgcctgcaat
 cccagcactt taggagggtg aggccggagg atcacttgag cctgtgagtt ggagaacagc
 ctgggcagca tAGATCCTGG TGTGTGTGGC AGGGGTGGGC GGGTGTGTGT GTAAAACaca
 cctgtataag gcatttacta tgaatggtgt ttgcaggact ggaagttgct gtggatgagt
 gaatgagtgg tgagtgaatg tgacagctga gaacgttgct gtacactgct atagacttta
 taaacactat atacttaggc catgctaaat ttatttattt ttaaatttca gtaataaatt
 agcttactgt aacttttcac tttataaact tcagtttttt aaaaactttt ttattctttt
 gtattaacac ttagcttaaa acactaaaca cattgtacag gtgtacaaac gtatttgtac
 ttattctata agctttttct attttaaaat tttttattat ttatttattt attattatta
 ttattttttt tgagacagtc ttgctgtgta tcccaggctg gagtgcagtg gtgcaatctc
 tgctcactgc aacctccgcc tcccgggttc aagcaattct cctgcctcag cctcccgagt
 agctgggact acaggtgcat gccgccacgc ccacctgatt ttctgtattt cagtagagac
 gaggttttac catgttgccc aggctggtcg taaactcttg agctcaggca gtctgcccgc
 ctcggcctcc cgaagtgctg ggattacagg tgtgagccac cgcgcccggc cagttcttta
 attttttaaa cttttttgtt aaaagctaaa acataaatgt acacacatac acacagacac
 acacacacta gcctaagcct gtacagggtc aggatcatga atatcactgt ttttctcctc
 cacatcttgt cccactgaaa ggtcttcaga agcagtaaca tgtatgggag actgtcatct
 cctataatga caatgctgcc ttctggaata ccgcctgaag gacctgcctt gaggctgttt
 tacagttaac ttaagaaaaa gtagaaggat tatactctaa taagtgtagt aaatacataa
 accagtaaca tagtcattta ttatcattat cggctattat gtactataca taattgagcc
 atgcttttat acagctggta gtgcattgat ttgtttacac cagcagcatc acagacacct
 gagtaatgcc ttatgctatg acagtttcaa cagctactac gtcactaggc cattggaatt
 tttcagttcc atggtaatct tctgggacca ctgtgtatga ggtctgtagt ttactgaaat
 gttgttatgc aacacatgac tgTTCTTGTA CGAAAAACCA TTATCTTCGT TGCTTTATCA
 ACTAAAGGTA GCTATTAAGA TTTGGAGTTA AAGACCTACC tatattttta aaatattttt
 attattttaC TTTGATTATT TTTGgagttg taatttatat agcatgaaat gcacagatct
 tatatttgtc aaaacccttt acccatgtaa cccacacccc tatcaagatt caggacattt
 ctcttagccc agaaagttcc tttgtatgcc tccctttttc tgtccccact catcccccga
 caattactgc taatttcttt tttttctttt ttttcttttt tttttttttt tgagacacag
 tctcgctctg tcacccaggc tggagtgtac tggcgcaatc tcggctcact gcaacctcca
 cctcatgggt tcaagcgatt ctcctacctc agcctcccga gtagctggga ctacaggtgt
 gcaccaccat gcccagctgg cttttttctt tttggtagag atagggtttc accatgttgg
 ccaggctggt ctcaaactcc tgacctagtg atccgcccac ctcagcctcc caaagtgttg
 ggattacagg tgtgagccac cgcgcccagc tgctaatttc tgtaaccatg aattgctttg
 cctgttctca gacctcacgt aatggaatca tgtagtgtga tgacttatag tatgtgcttt
 tttataaggc ttcttttgct cacaacttgt tttctgagat tcatccacgt tgttggcatg
 aactagttct tttttattgc taaatggtat tctgttttgt gactagagca taatttgctt
 gtccgttctc ccattaatgg acattggggt tgtttccagt ttgaagctat taagaataaa
 tcttctgccg ggcgcggtgg ctcacacctg taatcccagc actttgggag gccaaggcgg
 gtggatcaca aggtcaggag atcgagacca tcctggctaa cgtggtgaaa cccccatctc
 tactaaaaat acaaaaaatc agccaggtgt ggtgccaggc gcctgtagtc ccagctactc
 gggaggctga ggcaggagaa tggcgtgaac ctgggaggcg gagcttgcag tgacccgaga
 tcccactact gcactccagc ctaggcgaca gagcaagact ccgtctcaaa aaaaaaaaaa
 aaaaaaaaga agaaatcttc tgtgagcatt tttgtacagc tttttttgtg ggcatagaag
 ttttcatttc tcttagataa ataactagca acgaaattca ctgtacaagg aggtgtctgt
 ttCTGGACTC TGTAGTCTAA GGGCAAACTA TAGCCCATGA ACCACATCCA GCCCCATGAC
 CTGTTTTTAT ATGGCTTGCC ACGTAAGGAT GGGTTTTATA TTTTTTAAGG ATTGTTTAAA
 AAGAAAACAA TCTGGGATGG AAACCGCAGG TCATCTGCAA AGACTAAATT ATTTATTAAC
 TGGCCCTTCA TAGAAAAAAA AAATCCCTGT ACCTTTGTTC TAGTCTGTTC TATTGATCTA
 TTTTTCTATT CATTTAGTTT GTTTTTTAAG AAAAGCtttt ttgtttgttt gttttgtttt
 gttttggaga aggagtctcg ctcttttgcc caggccggag tgcagtggcg tggtctcggc
 tcactgcaac ctccacctcc cgggttcatg ccattctcct gcctcagcct cccttagtag
 ctggaactac aggcgcctgc caccatgccc ggccaatttt ttgtattttt actagagacg
 gggtttcacc gtgttagcca ggatggtctc gatctcgtga cctcgtgatc cgcccgcctc
 ggcctcccaa agtgctggga ttacaggcgt gagccactgc gcctggccCA AGAAAAGCTT
 TTAAagattt tgggtttttt tagagtagtt tgagcttcac aatgaaatga aggtacagag
 attttccatc tattccctgt tctcctagtt catagtctcc tccattttca acatcctccc
 caactccgct gtctagaatg gtacagtttg tcacaatcaa taaacctata ttgatacatc
 ataatccgaa gtctgtagtt tacactaggg ttcactcttg gtgttgtaca ttctgtggac
 ttggacaaat gtataatgat gtgcatcatt
 R
 tagtgtcatg cagagtattt tcactgccct aaaagccgtc tgtgtttcac ctcttcatcc
 ctctctcctt cccaaaaccc tggcaaccac tgattgtctc catagttttg cctttttgta
 aagttacagt cacacagtgt gtagcctttt ctcattggcc tcattcattt aataatatgt
 atttaaggtt cctctgggtc ttttcatggc aattatccct ttacctactg aaagacttca
 tggttgcttc caagttttgg caattatgaa taaagctgcc atatacatcc atgtgcaggt
 ttaagttttt acctgttttg ggtaaatacc agtgagcaca attgctggat catatggtaa
 gagtatgctt agttttgtga gaaactgcaa aaatgtcttc caaagtgtct atatcatttt
 acattcccac cagtgatgaa tgagagttcc tgttgcacta catcctcgcc agcatttcgt
 gttgacagtg ttctggattt ggctgttcta ataggcaaat agtggtatcc cattgttgtc
 atttgcattt ctgtgataag atgtgggtca tcttttcata cgcttatttg ccatctgtgt
 gtcttctttg atgaggtgta tgttaaggtc tttggcccat tttttaaaca ggttgttatt
 gttgagtttt gagagttctt tatatatttt tgtaaataga tctttatcag atgtgtttct
 tgcacatatt ttctcccagt ctgtggattg tcttctcatt ctcttgacat tatctttgaa
 ggggcagttt taattttaat gaagtcaatt ttatcaatCA CAAAAGTTTC ATAGATGAAA
 CTTTCATAGT TGTACTTTAG CTTTACAGTA AGTATTAAAG TCAGGTTGCT TAGTTTCTCG
 TTTTCATTTC TGTTTAATTC CTAGGTTTTA CACCattatt tgttgctagt atggagaagt
 ataataaatg tttctgtatt aatgttgtat cttgtaaccc tgctaaactc acttattaat
 tctataagat gtcttagaat tttctgggac atgttgtctg agaataaaaa tagcttgctt
 cttccttttt catctgtatg cattttattc atttttctgg ctttaatgtt ctgcctagga
 cctctagtac aatgttttgt ttgtttgttt tgggtttctt ttgagatgga ctctcactct
 gtagcccaag ctgaagtgca gtggtgctat ctcgcctcac tgcaacctcc acctctgggg
 ctcaagcgat tctcgtgcct cagcctcctg agtaactggg actacaggct tgcgccacca
 cacccagcta attttgtatt tttagtagat acggggtttc accatgttgg tcaggctggt
 ctcgaactcc tcacctcagg tggtccgccc atctcagcct cccaaagtgc tgggattata
 ggtgtgagcc accgtgcctg gccagcacaa tgtttaataa aaccaatgac agtgttcttc
 ccttgtctta ttcatgatct gtgggaaaaa agcattcagc ctttcgttaa gtataatgtt
 agttgtaggc tttaggtatc attcattagg atgaggaatt ctgtttctag tttgctgagt
 cttttgatca taagcgatta ctgaattttg ccacatcttt tttcatttat tgagatgaat
 catagggtgt tttttttttc tttgaatgtg aattacgtct ttctgagtgt tgaaccagcc
 ttgcattcct gtgagataac cccacttgat tgtggagtgt tatctttttt atatgttact
 ggatcagatt tattaaaata ttgttcagga tttatgcttc cacagtaatg tgctacataa
 cgaattttgg tcagcagcag actacatata caacagtggc cccttaagac tataatatat
 ttttactgtg ccttttctat gtttagatac acaaatactt acaattttgt tacagttgcc
 tccagtattc agcacagtaa caagctgtac aggtttgtag cctggaagca gtgggctata
 ccatacagcc taggtgtgta gtaggctaca ccatctaggt ttgtttaagt acacccaaag
 tgtaagttcc cacagtgacc agaatcacct aatgacactt ttctcagaag atgtccttgt
 ctttgggcga agcatgattg gtatattcat gagtgatatg ggtctataac tttctgtttt
 tttggagtgt tcttatttgt ttttgataac aataatatac tggcttcatg aagttacctg
 ggaattgttc cctttgttct gaaagttcat ttaagattag tattatttat tcattaaatg
 tttgataaaa ttcaccagtg aagcgatcca ggtctggagt tttccttgtg ggaaggtttt
 aaaattatga ttcagttact ttaaatttga atagctaata ggtattagct attcaaattt
 tctgcttctt gtgctaattt tggtaatttg tatttttgag taatatatcc attttaagtt
 cttgaattga tttggcatga aggtgttcat aacatttctc tactcttttc ttttttttct
 ttcttttttt tttaactgag tcagagtctc actccgttgc ccaggctgga gtacagtggc
 atcatctcag ttcactgcag cctccacgtc ctgggttcaa acagttctcc cacgtcagcc
 tcccaagtag ctgtgcttac aggcgcacac caccatgcct ggctaagttt cgtattttta
 gtagaggagg ggtttcgcca tgttggccag gctggtgtcg aactcctgac ctcaagtgat
 ccgcctgcct cagcctccca aagtgctggg attataggtg tgagccacca tgcccggcct
 ctgtactctt ttcttaattt ggatagaatt tataataatg tctggtgtgc tctcttgttt
 ttctctcatt gatctaggtt ggggtttgtc cattttatta atattttcaa acagccagct
 tttgttgttg tcagcctttt cttgtttgtt ttctatgtca tttatttctg tctttatttt
 cttctgctta tgttggcttt tctttggggt agaagtttgt atcactggtt atttagactt
 ttccaatatt aacatttggg caataaattt ctccttaaac cctatgcatc ttttttattt
 ccccatttct ttgaatcctt taaatccata aacataaaaa agtaccccaa atactgttgt
 taattgcatc tcaaatttta atacattttt taaattagtt taaaatatgt ttatatttta
 catgtgattt attctttgac ccatggatta tgctgaagtg tgtttagctt ttaaatattt
 aggaattttg cagatatttt attgttggtt tttaactcca ctgtgttcag aaaacatgct
 ttgtatggtg gttgtccttt gaaattgaag acttgtctta cggcccagca aatggttttt
 cttgacaaat attctatcta tacttgaaaa gaatgatcag gcgcagtgtc tcatgcctgt
 aatcccagca ctttgggagg ccaaggcgga cagatcactt gagttttaga ccagcctggc
 caacgtggtg aaacctgtct ctactaaagg tacaaaaaaa attaatagcc aggcttggtg
 gtgcgcttct gtagtcgcag ctgcttgagg gggctgagat acaaaaatcg cttcacccca
 ggaggtagag gttacagtga gctgagatcg cgccactgca cttcagcctg ggtacggagc
 aagactctgt ctcataaaaa tagaatgtgt atcctacagt tgtgggatgt gatgtttcat
 aattgtctat tagaataagt tggttgatgg tgttcaaatc cttatgattt ttttgttcta
 ttggttacta agagaggatt attaaaatct acaattacaa ttttaggttt gtctggtttt
 tcatttagtc agaacaaaat gtaagtactt gtttcatgtg ttttgaaact gttttattag
 gttaatatgt attttggatt gtaatgcctc tggtaaattt agccttttat cattatgaaa
 tatttgtttt tgttaatatt ctttgtcttt atctcctttt tctcatattt aatgtagact
 ccTTATGATT AGCATTCACA tttttttttc actctttttg ttttgttttg ttttgataca
 ggatgtcact ctcacctaag ctgcagtcca gtggcgcagt ctgggctccc tgcaacctct
 gccccccacc ccgggtgagg tgatcctccc acctcagcct cctgagtagc tggaaccaca
 ggcacacact accacgtctg gctatttttt tgtattttta gtagagacag ggtctcgcca
 tgtttcccag gctggtctca aactcctgag ctcaagcgat ctgcccacct cgacctccca
 aagtgctggg attacaggca tgagtcacca cacccagccc actcttaact ttgtctctta
 agtatgtctc ttgtaagcag cgtagcatta gatcttattt aatttattct gataacctta
 gtcttttaat tgtagtgttt agtttattta tatttaatgt tgataattgt tgggtttagg
 tttctcatct tatttgtttt ctgtttgctg cttctgtgtt ttgttccttt ttttctccct
 tcctgctctt cttgtagaGG CAaattccaa catctctgtc atctctgtat ctgtttcatt
 tacagtcttg tttgtttaaa tatagaattc ctggttatgg gtcacatctt cctgctcctt
 ggcatgtcca gtacttttag actgtgtagt ggaaatggtg gatgataatg ttgttgaata
 tgggttttat tgtcctttat tagtttgttt tgttctggca ggctcttaat tactcagatc
 agtttgattc tctcaaagct tgtttttaaa cttAACTTAG GGCAGGTCTT GAAGCCCTGT
 TCCTTAGACA TGGCCTTGGG

  GeneView back to top
GeneView via analysis of contig annotation: CREBBP CREB binding protein
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_037887->NM_001079846
function
referenceNT_037887->NM_004380
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_037887->NM_001079846->NP_0010733153824596reverseintron
referenceNT_037887->NM_004380->NP_0043713824596reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1296715 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NT_037887.438245963824596minusCref_assemblyreferencereferenceview3930
16NW_001838341.111852433853413minusTalt_assembly_8HuRefHuRefview3930
16NW_926018.138069244091274minusTalt_assembly_1CeleraCeleraview3930

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010552 AC004495 AC007151.2
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss2066087HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 88IG 1.000 1.000
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.667 0.267 0.067 0.200 0.800 0.200

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.109+/-0.20627021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .