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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1980607          
refSNP ID: rs1980607
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:92/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_032341.3:c.890-978A>G
NT_004873.16:g.2368075A>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 ss2885818 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1980607 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
ss2885818TSC-CSHL|TSC0927206byFreqfwd/TA/Gaatcggaccctacccacaccacacaaaagcaattcagagtaaacacctagatgcagggga01/03/0110/25/0692Genomicunknown
ss9826924BCM_SSAHASNP|chr1.NT_004873.14_2352402fwd/TA/Gaatcggaccctacccacaccacacaaaagcaattcagagtaaacacctagatgcagggga06/27/0310/10/03116Genomicunknown
ss67605389ILLUMINA|HumanHap650Yv1.0_rs1980607fwd/TA/Gaatcggaccctacccacaccacacaaaagcaattcagagtaaacacctagatgcagggga11/14/0611/14/06127Genomicunknown
ss71255260ILLUMINA|HumanHap650Yv3.0_rs1980607fwd/TA/Gaatcggaccctacccacaccacacaaaagcaattcagagtaaacacctagatgcagggga04/23/0704/23/07127Genomicunknown
ss75378849ILLUMINA|ILMN_Human_1M_rs1980607fwd/TA/Gaatcggaccctacccacaccacacaaaagcaattcagagtaaacacctagatgcagggga08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1980607|allelePos=1390|totalLen=1479|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 gcccaggctg gtctcgaact cctgagctca aagtgattcg cctgcctcag cctcccaaag
 tgctgggatt acaggcgtga gctgctgcgc ctggcTGGTG ATGTTTCCTA TTAGAACATG
 GCAGTATAGT TTTCTGCACA TTTTGATTTT TTCCCCCTAG TCAAGATTCC TATAAGTGAA
 ACTACTGAAT CAAAGTTACG GATGCTTTAG GACTCTTGAT ATGTTGCTAA CCTGTACCAA
 TCCAGTTTAT CCACCACTGA ATGAATATTC ATCTTAGTGT CCTATACTGT TAAGGAATAT
 TAGTTTTCCC TCTTAAATTT ACAAATAAGG Tgggtgtggt ggctcatgtc tgaaatccta
 gcactttgag aggccaaggt gggcagattg cttgagctca ggagtttgag accagcctgg
 gggccatagc gaaaccacat ctctactaaa actacaaaaa attagccggt tgtcatgacc
 gtacgcctgt agtcccagct actcaggagg ctgaggtgag aggatcactt gaacccggga
 ggcaaaggtt gcagtgagcc gagatcatgc cagtgtactt cagcctgggc aatagagcaa
 tactcttttc tcaaaaaaaa TTTTTTTTTA CAAATAAAAG AGTGGTTTCT TATTGTAAGT
 TACTTTTCTT TCATTGTAAA TGATAGTTTT TCTGCACATT TGCTCTTCCT TTCTTTTGAA
 ATATGTATGT CTGTTTATTA GGGTCTTTGT GTTTCTCTTA TTGATTTGTG TAGGATAAAG
 ATAGTTCAAC TACCTTACAC TTTCCTAAAC ACAGTAGGAC TAAGAGTTTT GCAGGAATAC
 CATAAACTGG TTCCTTCAGG GGCTGAGTTC TCAGATTTTT GATGACTTTA AATGAGAAGA
 TAATAGGAGG AGACAAAATA AGTACCAAGC TCTGTGGCCA TCCTTGTGGA TTTTACAACC
 GTGGCTATGA TCAGCATGAA AAAACCCTTA TAGCAATAGG GGAAACCTAA ATAAAAGGAA
 AGCTTTACCA TGGATTAGAG ATTCAGTATG TTGGGGGTGG CAGTTCTCCC ACATTAATCC
 ACAGAACCAT TGAGATGCCA TCAAAATCCT GGTAGATTTT TTGTGAGACT GGATGTGCTC
 ATTTTAAATT TGGCGTGGGC CCTATATTGT GAGAATGGGC AAAATACTCT AGAAAAACAT
 TGCCTTCTAG ATATCAAAGG ACTATCTAGA AGATATGAGT AGAAACAAAC CCATGATTCT
 ATGAACATTG ATCAATGAGA GGAAGTCTTA CAGAGCAATG GGGAAATGTT AGGAAATGTT
 GCTGGGACAA GAGGTATCCA TGGGGAGAAA TGAATTAGAA ATCGGACCCT ACCCACACCA
 CACAAAAGC
 R
 AATTCAGAGT AAACACCTAg atgcagggga gggaggattg cttgagccta ggagtttgag
 accagcctgg gcaacgtagc agaccctgt

  GeneView back to top
GeneView via analysis of contig annotation: DDI2 DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)
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_004873->NM_032341
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_004873->NM_032341->NP_1157172368075forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1980607 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
1NW_925794.1228371214458116plusAalt_assembly_1CeleraCeleraview1389
1NW_001838564.288001614494369minusTalt_assembly_8HuRefHuRefview1389
1NT_004873.16236807515847824plusAref_assemblyreferencereferenceview1389

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004873
dbSNP Blast Analysis
GenBank HTGS Finished:
AL121992.24

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss2885818HapMap-CEUEuropean 118IG 0.525 0.356 0.119 0.273 0.703 0.297
HapMap-HCBAsian 90IG 0.867 0.133 0.655 0.933 0.067
HapMap-JPTAsian 88IG 0.886 0.114 0.752 0.943 0.057
HapMap-YRISub-Saharan African 120IG 0.100 0.583 0.317 0.100 0.392 0.608

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.408+/-0.19327021000

  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 .