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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6772315          
refSNP ID: rs6772315
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001018115.1:c.2495-911G>A
NM_033084.3:c.2495-911G>A
NT_022517.17:g.10053644G>A
Links

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 ss10030511 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6772315 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
ss10030511BCM_SSAHASNP|chr3.NT_005927.15_10042490fwd/TA/Gttgtacttttggtgcagatggggtttcacctgttggccgggcttgtctcgaactcctgac06/27/0310/10/03116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6772315|allelePos=4763|totalLen=5572|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=116
 GTACTTTGCA GATTGTAAAT GCCTTCTGCC AGGAAACATC ACCTGAGATG AAGGGGAAGG
 TGCTCACTCG GTTAAAGCAC ATTGTAGAAT TGCAAATAAT CCTGGAAAAG TACTTGGCAG
 GTAAGAGAAG TGTCCTATAC TGGTAGTACT ACTAGGCCAG TAGTGAGGCA ATAAAGCACT
 TAGCTTTccc tgataccaaa accagacaaa gacacatcaa aaaaagaaat ctcaggccaa
 tatccctgat gaacattgat acaaaaatcc taacaaaata ctagcaaacc taattcagca
 acacattaaa aatatcagct gggcacgagg tggctcacgc ctgtaatcct agcacttttg
 gaagccaagg cgggtggatc acttgaggtc aggaattcga gaccagcctg gccaacatgg
 tgaaaccctg tttgtactaa acatacaaaa attagccagg cgtggttgtg ggcacctgta
 atcccaacta cttgggaggc tgagacagga gaatcgcttg aacctgggag gcggaggttg
 cagtgagcca agattgtgcc actgcactcc agcctgggtg acagagcgag actcccatct
 caaaaacaaa caaaagaaag attattcatc atggccaaat gggatgattt atcccaggga
 tgcaaggatt gttcaacata tgtaaatcaa tgtgatacct cctatcaaca gaatgaagga
 caaaaaccac atgatattta aattgatgct taaaaaaatt ttataaaatt caacatcctt
 tcatcataaa aaaccctcag aaaactgggt atagatccat agctactatt aaactgaaca
 gaaaaaaact gaaagccttt cctctaagat ctgaacaaga caaggatacc cacttatata
 ataccactat tataaaatac agtattggaa gtcctagcta gaacaattag acaagagaga
 gaaagaaaga aagggcatcc aaattggaaa ggaagatgtt aaattatcct tgtttgcaga
 tgatatgatc ttatatttgg aaaagcctaa agactccacc aaaaaactat tagataaatt
 cagtaaagtt gcaagataca aaatcatcat ataaaaatga gtagcatttc tgtatgccaa
 caactaagaa tctgaaaaaa atcaagaaag taatccattt acaatagcta caaataaaat
 aaacaaaagt tacaaataaa ataggaataa gcttaaccaa agaagtgaaa gagcactata
 atgagtacta tgaaacattg atgcaagaaa ttaaagagca aataaaaaaa ggaaagatac
 ttcatgttca tggatcggaa gaattaatat tgttaaaatt tccatgctac ccaacacaat
 ctacagattc aaggcaatcc ctattaaaat accaatgaca ttcttcacag aaatagaaaa
 aaaaaaagcc taaaatttat atagaaccac cgaagaccca gaatagccaa agctgtcctg
 agtaaaatga atgaaactgg aggaatcgca ttacctgact tcaaattata ctacagagct
 atagtaacca aaacagcatg gtgctggcac aaaaacagat gcatatacca atggaacaga
 agagagccca gaaataagtc catacaccta caatgaactc attctcagca aaggtgccaa
 gaatatacat tggggaaaga cactctcttc aataaatggt gttgggaaaa ctggatatcc
 atatgcagaa gaatgaaact agacccctat ctcttgccat atacaaaaat caaaatggat
 tatagactta aatctaagac ttcaaattat gaaactacta acaacaacaa caaaaaacat
 tcagaaaact cttcaggaca ttagagtggg caaagatttc ctgaggaata ccctacaagc
 acaggcaacc aaagcaaaaa tggacaaatg ggatcacatt aagttaaaaa gttaagttcc
 tttcctctgc atagcaaagg aaacaccaaa gtgaagagac agcccacaga atgcgagaaa
 atatttgcaa actatgtatc tgacaaggga ctaataactg gaatatataa agataggaaa
 aaaaattatt cggattgaaa aatgggtaaa aggtctgaat agacatttct caaaagaaga
 catacaaata gtggatatgt gaaaaggtgc tcaacatcac tgagcctcag agaaatgcaa
 atcaaaactg ccatgtgatg tcatctcacc ctagttaaga tgcctctccc cctccccctc
 cccctccccc tctcccgtct ccctctgatg ccgagccaaa gctggactgt actgctgcca
 tctcggctca ctgcaacctc cctgcctgat tctcctgcct cagcctgccg agtgcctgcg
 attgcaggcg cgcgccgcca cgcctgactg gttttcgtac ttttttggtg gagacggggt
 ttcgctgtgt tggccgggcc ggtctccagc tcctaaccgc gagtgatccg ctagcctcag
 cctcccgagg tgccgggatt gcagacggag tctggttcac tcagtgctca atggtgccca
 ggctggagtg cagtagcgtg atctcggctc gctacaacct ccacctccca gccacctgcc
 ttggcctccc aaagtgccga gattgcagcc tctgcccggc cgccaccccg tctgggaagt
 gaggagcgtc tctgcctggc cgcccatcgt ctgggatgtg aggagcctct ctgccaggct
 gcccagtctg gaaagtgagg agcgtctctg cccggccgcc atcccatcta ggaagtgagg
 agcgtctctg cccggccacc catcgtctga gatgtgggga gcgcctctgc cccaccgccc
 cgtctgggat gtgaggagcg cctctgcccg gccgcgaccc cgtctgggag gtgaggagcg
 tctctgcccg gctgccccgt atgagaagtg aggagaccct ccgcccggca accgccccgt
 ctgagaagtg aggagcccct ctgcccggca gccgccccat ctgagaagtg aggagtccct
 ccgcccggca gccaccctgt ctgggaagtg aggagcgtct ccgcccggca gccaccccgt
 ccgggaggga ggtgggggtc aggccccgcc aggccagccg ccccgtccgg gagggaggtc
 agggggtcag ccccccgccc ggccagctgc cccgtccggg aggtgagggg cgcctctgcc
 cagccgcccc tactgggaag tgaggagctc ctctgccggg ccagcctccc ggtccgggag
 ggaggtgggg ggggtcagcc ccctgtccgg ccagccgccc cgtccgggag gtgaggggcg
 cctctgcccg gccgccccta ctgggaagtg aggagcccct ctgcccggcc accaccccgt
 ctgggaggtg tacccaacag ctcattgaga acaggccggg atgacaatgg cggttttgtg
 gaatagaaag gggggaaagg tggggaaaag attgagaaat cggatggttg ccgtgtctgt
 gtagaaagaa gtagacatgg gagacttttc attttgttct gtactaagat aaattcttct
 gccttgggat cctgttgatc ggtgacctta cccccaaccc tgtgctctct gaaacatgtg
 ctgtgtccac tcagggttaa atggattaag ggcggtgcaa gatgtgcttt gttaaacaga
 tgcttgaagg cagcatgctt gttaagaatc atcaccactc cctaatctca agtacccagg
 gacacaaaca ctgcggaagg ccgcagggtc ctctgcctag gaaaaccaga gacctttgtt
 cacttgttta tctgccgacc ttccctccac tattgtccta tgaccctgcc aaatccccct
 ctgcgagaaa cacccaagaa tgatcgataa aaaaaaaaaa agaaaaaaAG AAAAAAAAAA
 Aaagatggct tttatccaaa ggacaggcaa taacagatgc tggtgagaat atggagaaaa
 gagaaccttt gtacactgtt ggtgggaatg tcaattagta caagcactat ggagaacagt
 ttggagtttc ctcaaaaaac taaaaataga atcaccatat gatccaggaa tgccactggt
 aggtatatac ccaaaagaaa ggaaatcagt ataccaagga gatatctgca ctcccatgtt
 tattgcagca ctattcacaa tagtcaagat ttggaagcaa cctaagtgtc catcagcggg
 tgaatggata aaatgtggtc cgtatacaca atggagtact attcagccat aaaaaacaat
 gagatcctgt tgtttgcaac aatacagatg gaactggagg acattatgtt aagtgaaata
 ggccaggcac aacatatttt cacatatttg tgggagctga aaattaaaat aatttaactc
 atggagatag agtagaagta tggttaccag aggctgggga gggtaatggt ggttggggga
 ctgggaaaaa tgagggtggt taatagcttc aaaaatataa ttagatagaa tgaataagat
 ctagttgttt ttgtattttt gagatggagt ctcgctctgt cacccaggct ggagtgcagt
 ggcacagtct cggcttactg cgacctctgc ctcctgggtt caagcaattc tcctgcctca
 gcctcctgag tagccgggac tagaagtgtg caccaccaca cccagctaat ttttgtactt
 ttggtgcaga tggggtttca cc
 R
 tgttggccgg gcttgtctcg aactcctgac ctcaagtgat ccaccttcct cggcctccca
 aagtgctggg attacaggca tgagccagag agcccagcca agatctagtt tttgatagca
 caacagggtg actacagtca acaataactt actgtacatt taaaaataac taaaatagta
 taattggatt gtttgtaaca caaagaaatg ataaatgctt gaggtgatgg ataccccatt
 taccctcatg tgattattat acattgtgta cctgtatcaa aatatctcat gtgcgccata
 aatatatata TACCTTTCCC tttttttttt ttttttgaga cagaggcttg ctttgtcgcc
 caggctggag tgtggtggtg cgatctctgc ttactacaac ctctgcctcc tgggttcaag
 caattctcct gccacagcct cccaagtagc tgggattaca ggcgtctgcc agcacacctg
 gctcattttt gtatttttgg tagagatagg gtttcaccat gttggccagg ctggtctcaa
 actcctgacc tcaggtgatc cgcgcgcctt gacctcccaa agtgcttggg gttacaggcg
 cgagccaccc tgcctggccA CCATTTAGAT TTTAAATGTT TGTTTTAGTT TTTTTCTGTT
 TGTTAGTTAT ATATCATTAT TTAAAGTGGT TTTATGATAA TTGATCATAC TTAATATGAT
 ATTTCTGTGT TATCTCTGGC CATTTTGCTA TGCCAAAACA ATGTCAGATG ACTTGAATAT
 GTCTTATAAG CATTCAGCCA TGCTTGGTA

  GeneView back to top
GeneView via analysis of contig annotation: FANCD2 Fanconi anemia, complementation group D2
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_022517->NM_001018115
svfunction
referenceNT_022517->NM_033084
svfunction
HuRefNW_001838876->NM_001018115
svfunction
HuRefNW_001838876->NM_033084
svfunction
CeleraNW_921651->NM_001018115
svfunction
CeleraNW_921651->NM_033084
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_022517->NM_001018115->NP_00101812510053644forwardintron
referenceNT_022517->NM_033084->NP_14907510053644forwardintron
HuRefNW_001838876->NM_001018115->NP_001018125292417reverseintron
HuRefNW_001838876->NM_033084->NP_149075292417reverseintron
CeleraNW_921651->NM_001018115->NP_00101812510049311forwardintron
CeleraNW_921651->NM_033084->NP_14907510049311forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6772315 maps exactly once on NCBI human chromosome 3
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
3NW_921651.11004931110049311plusGalt_assembly_1CeleraCeleraview4762
3NW_001838876.229241710050017minusCalt_assembly_8HuRefHuRefview4762
3NT_022517.171005364410088644plusGref_assemblyreferencereferenceview4762

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005927
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC007999.13 AC018808.5 AC018828.4 AC034193.5 AC069461.2 NC_000003.10 AC023236.11

  Population Diversity back to top
There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .