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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2918150          
refSNP ID: rs2918150
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:101/129
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_174937.3:c.1034+695A>G
NT_008818.15:g.4194621T>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 ss39795917 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2918150 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
ss4116792SC_JCM|AC012578.5_47776byFreqfwd/BC/Tgcatggcacagcaggcccagtcagcagggagtgctcactcgctatgcaaggctggtgggg10/15/0110/25/06101Genomicunknown
ss10604129BCM_SSAHASNP|chr10.NT_008818.14_4183195fwd/BC/Tgcatggcacagcaggcccagtcagcagggagtgctcactcgctatgcaaggctggtgggg06/29/0310/10/03116Genomicunknown
ss12971345SC_SNP|NT_008818.14_4183195fwd/BC/Tgcatggcacagcaggcccagtcagcagggagtgctcactcgctatgcaaggctggtgggg10/22/0310/31/03119Genomicunknown
ss16504543CSHL-HAPMAP|CSHL-HuAA-200402.chr10.NT_008818.15_4194621fwd/BC/Tgcatggcacagcaggcccagtcagcagggagtgctcactcgctatgcaaggctggtgggg02/17/0403/04/04120Genomicunknown
ss19185661CSHL-HAPMAP|CSHL-HuDD-200402.chr10.NT_008818.15_4194621fwd/BC/Tgcatggcacagcaggcccagtcagcagggagtgctcactcgctatgcaaggctggtgggg02/20/0403/04/04120Genomicunknown
ss24546695PERLEGEN|afd4118943byFreqfwd/BC/Tgcatggcacagcaggcccagtcagcagggagtgctcactcgctatgcaaggctggtgggg08/10/0409/13/04123Genomicunknown
ss39795917ABI|hCV3233082byFreqfwd/BC/Tgcatggcacagcaggcccagtcagcagggagtgctcactcgctatgcaaggctggtgggg07/16/0511/02/06126Genomicunknown
ss69097187PERLEGEN|PGP04118943byFreqfwd/BC/Tgcatggcacagcaggcccagtcagcagggagtgctcactcgctatgcaaggctggtgggg01/30/0703/31/08127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2918150|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=127
 GCCTGTGGGG TTTGGCTCTA ACTCCCAGTA GTTAGCATCA GAATCGAGCT AAATTGTAAG
 GGTTGGAGAA TGGGTGGCTG GAAAACAGCA TAATATTAGT ACAAAGAGGT CTCACCCCGA
 GGCACTCCCA GGGTACAGAG GAGCTTTAGC TACAAATGGA AGGCTGGAGG CACCAGGAGC
 CTGCCACCGA CACTGACCAT GGCATAGAAG CCAGGGGTGC CAGTCTGTCC AGATTGGAGC
 CAAGTTCACC CGAATCATCA GAGGACCAGG GCATGGCACA GCAGGCCCAG TCAGCAGGGA
 Y
 GTGCTCACTC GCTATGCAAG GCTGGTGGGG GCCCTGCGCT CCTTAGCCGG CTGCCTTCTG
 TACCTGGCTG GCACATTGAG CTGACACAAG TGGTTGCTAT TTCTGTTCTT TAAATTAGCT
 GTGCCTCCCA GCTGTGTACT GCACTCTCAT CTTCAGGCTT GAAACTTAAT TTTTACTGTA
 ATAACCTTTT ATTCTGCTTC CAAATGACTC CATTATAAAA GGGCATTTTT AAAAACCAAA
 AACTGTAGCT CCCTCGTGGA GGGTGTCTGG AGTGTGGCAT ATTCCGAGAG CAAGCAGCCA

  GeneView back to top
GeneView via analysis of contig annotation: TCERG1L transcription elongation regulator 1-like
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_008818->NM_174937
svfunction
HuRefNW_001838012->NM_174937
svfunction
CeleraNW_924884->NM_174937
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_008818->NM_174937->NP_7775974194621reverseintron
HuRefNW_001838012->NM_174937->NP_777597371267reverseintron
CeleraNW_924884->NM_174937->NP_77759743634274reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2918150 maps exactly once on NCBI human chromosome 10
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
10NW_001838012.1371267126535264plusCalt_assembly_8HuRefHuRefview300
10NW_924884.143634274126631457plusCalt_assembly_1CeleraCeleraview300
10NT_008818.154194621132850680plusTref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008818 AC067746 AL390203
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC067746.7 NC_000010.9 AC012578.5
UniGene Cluster ID
126575

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss24546695AFD_EUR_PANELEuropean 48IG 0.375 0.375 0.250 0.251 0.562 0.438
AFD_AFR_PANELAfrican American 46IG 0.565 0.435 0.200 0.783 0.217
AFD_CHN_PANELAsian 48IG 0.458 0.417 0.125 1.000 0.667 0.333
ss39795917HapMap-CEUEuropean 118IG 0.356 0.475 0.169 1.000 0.593 0.407
HapMap-HCBAsian 90IG 0.533 0.400 0.067 1.000 0.733 0.267
HapMap-JPTAsian 90IG 0.489 0.422 0.089 1.000 0.700 0.300
HapMap-YRISub-Saharan African 120IG 0.800 0.200 0.403 0.900 0.100
ss4116792CHMJAsian 74IG 0.689 0.311
ss69097187HapMap-CEUEuropean 120GF 0.350 0.467 0.183 0.583 0.417
HapMap-HCBAsian 90GF 0.533 0.400 0.067 0.733 0.267
HapMap-JPTAsian 90GF 0.489 0.422 0.089 0.700 0.300
HapMap-YRISub-Saharan African 120GF 0.800 0.200 0.900 0.100

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.400+/-0.2003322602700

  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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .