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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2035255          
refSNP ID: rs2035255
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:94/129
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_015510.3:c.20+18609T>C
NT_010718.15:g.20646129T>C
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 ss14301741 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2035255 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
ss2944421TSC-CSHL|TSC1049358fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt01/29/0110/25/0694Genomicunknown
ss6263238SC_JCM|NT_030843.3_3626651rev/TA/Gaaagttgaaaaatggttgagtagaaccatctaagttgggaaccatctgtagtttaaattt01/10/0310/10/03111Genomicunknown
ss14301741BCM_SSAHASNP|chr17.NT_030843.7_1909199byFreqfwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt11/05/0310/25/06119Genomicunknown
ss16760251CSHL-HAPMAP|CSHL-HuAA-200402.chr17.NT_030843.7_1909199fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt02/17/0403/04/04120Genomicunknown
ss20044403CSHL-HAPMAP|CSHL-HuFF-200402.chr17.NT_030843.7_1909199fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt02/21/0403/04/04120Genomicunknown
ss44030768ABI|hCV1889687rev/TA/Gaaagttgaaaaatggttgagtagaaccatctaagttgggaaccatctgtagtttaaattt07/18/0507/18/05126Genomicunknown
ss66834852ILLUMINA|HumanHap300v1.1_rs2035255fwd/TC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt11/09/0611/09/06127Genomicunknown
ss67217526ILLUMINA|HumanHap550v1.1_rs2035255fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt11/14/0611/14/06127Genomicunknown
ss67611423ILLUMINA|HumanHap650Yv1.0_rs2035255fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt11/14/0611/14/06127Genomicunknown
ss70695797ILLUMINA|HumanHap550v3.0__rs2035255fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt04/20/0703/30/08130Genomicunknown
ss71261300ILLUMINA|HumanHap650Yv3.0_rs2035255fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt04/23/0704/23/07127Genomicunknown
ss75899619ILLUMINA|ILMN_Human_1M_rs2035255fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt08/28/0708/29/07129Genomicunknown
ss79108976ILLUMINA|HumanHap300v2.0_rs2035255fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt04/18/0711/18/07130Genomicunknown
ss83814445HGSV|Cor18956_SNV_20070510.chr17_20989505fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt11/30/0712/05/07130Genomicunknown
ss83950821KRIBB_YJKIM|KHS581967fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt12/04/0712/06/07130Genomicunknown
ss90556529BCMHGSC_JDW|JWB-1009948fwd/BC/Taaatttaaactacagatggttcccaacttagatggttctactcaaccatttttcaacttt02/26/0802/29/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2035255|allelePos=219|totalLen=719|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TCTCAGTAAC TCTTCAGAAA ACGTGTTTAA AAAGAAAACA TTTAAATGCA GGTTTATGGG
 AAAATGTTAC ATTTCTTAGT ATGTTCCATG TGGTAGAATA TTGTACTGTG TAGAAGCATC
 TCAATTAATG AAAAGGGGAA TTTTAAAAGG TCACTTCATT TTCCATTGCT GGATAAGGAG
 AGATAAAGAA ATTTAAACTA cagatggttc ccaactta
 Y
 gatggttcta ctcaaccatt tttcaacttt atgatggtgc aaaagtcata tgcatgtaga
 aactatactc aagtacctat acacccattc tatttttcac tttcagtaca gtattaataa
 atcacatgaa ataatcaaca ctttattata aaataggttt atctgagatg attttgctta
 actgtaggct aatgtaagca ttctgagcat gtttaagtta ggttaggcta aggtatgatg
 tttagtaggt taggtgtatt aaatgtattt ttatttatgg tattttcaac ttatgatggg
 tttattgaga caatcccatg taaattgagg agcatctgTA GTTGATTTGG TTGCCCATTA
 ATGTTGGGCA CAAGGAAGAA TAATAATTTA TCCATTTTCT TCGTTCGTTC TCTTTACTGT
 TTCTTATATT ACCTAACACC CCCTCAGATA GATAACCCAG CAGTTGTGGT AATAATATCA
 TTTAACTAGA CCAAATAAAA

  GeneView back to top
GeneView via analysis of contig annotation: DHRS7B dehydrogenase/reductase (SDR family) member 7B
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_010718->NM_015510
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010718->NM_015510->NP_05632520646129forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2035255 maps exactly once on NCBI human chromosome 17
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
17NW_001838428.161531420251008plusTalt_assembly_8HuRefHuRefview218
17NT_010718.152064612920989505plusTref_assemblyreferencereferenceview218
17NW_926739.152182121493558minusAalt_assembly_1CeleraCeleraview218

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030843.3
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss14301741HapMap-CEUEuropean 120IG 0.200 0.350 0.450 0.025 0.375 0.625
HapMap-HCBAsian 90IG 0.133 0.311 0.556 0.200 0.289 0.711
HapMap-JPTAsian 90IG 0.556 0.444 0.020 0.278 0.722
HapMap-YRISub-Saharan African 120IG 0.133 0.433 0.433 0.752 0.350 0.650

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.441+/-0.16127021000

  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, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .