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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs35110529          
refSNP ID: rs35110529
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001018115.1:c.182C>T
NM_033084.3:c.182C>T
NP_001018125.1:p.T61M
NP_149075.2:p.T61M
NT_022517.17:g.10014632C>T
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 ss49853284 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35110529 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
ss49853284EGP_SNPS|FANCD2-008516fwd/BC/Tttcttaagatatcaggaattattcttaaaagggagagagtcagaatcaactaggtaatat12/28/0512/28/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs35110529|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=126
 TTTATTTCAC TACAGCATCA ATCCTAGTAT AATTTTTAAG GACACATCAG TTTTCCTCTC
 ATGATTATTA TTCCTGGGTT TAAGTTTTAA TTTTTCCTTT ACTATTTGCC ATATTCTTGA
 AAATTTTTCT ATTTTCAGAA ACCAGGAAGC AACCACTTTC CAAAAAGACA AAGAAATCTC
 ATATTGCTAA TGAAGTTGAA GAAAATGACA GCATCTTTGT AAAGCTTCTT AAGATATCAG
 GAATTATTCT TAAAA
 Y
 GGGAGAGAGT CAGAATCAAC TAGGTAATAT TTTAATCTAA TTTTATTCTC TGGGTTTAAT
 GAAATAGTTC AGGACTGAAT CATGGGTTTT CTAAATAGAG AGGCAATGAA GATTAGAAAT
 CAGAGGGCCA TCCATCTTGA GACAAAGTTG AAATTGCTTT TTAGAAAATG GTACAGTCAG
 GCCGGGCGCG GTGGCTCACG TTTATCATCC CAGCACTTTG GGAGGCTCGA GGCAGGCGGA
 TTGCCTGAGC TCAGG

  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
function
referenceNT_022517->NM_033084
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_022517->NM_001018115->NP_00101812510014633forward260missenseTMet [M]261
contig referenceCThr [T]261
referenceNT_022517->NM_033084->NP_14907510014633forward260missenseTMet [M]261
contig referenceCThr [T]261

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs35110529 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_921651.11001008610010086plusCalt_assembly_1CeleraCeleraview255
3NW_001838876.233148310010951minusGalt_assembly_8HuRefHuRefview255
3NT_022517.171001463310049633plusCref_assemblyreferencereferenceview255

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
DQ341263
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):
NM_001018115.1 NM_033084.3

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
HWPC
T
ss49853284EGP_YORUB-PANELSub-Saharan African 24IG 1.000 1.000
EGP_HISP-PANELHispanic 42IG 1.000 1.000
EGP_CEPH-PANELEuropean 40IG 0.950 0.050 1.000 0.975 0.025
EGP_AD-PANELAfrican American 28IG 1.000 1.000
EGP_ASIAN-PANELAsian 48IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.011+/-0.073959500

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

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Revised: May 25, 2006 1:38 PM .