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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs176036          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/130
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_005462.3:c.1A>G
NM_005462.3:c.74G>A
NP_005453.2:p.Cys25Tyr
NP_005453.2:p.Met1Val
NT_011786.15:g.25204612G>A
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 ss8180035 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs176036 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
ss234234KWOK|OVLP-000621-151554fwd/TA/Gtccagagttcctctgagagtcctcagagtttcctgagggggaggactcccagtctcctct06/30/0010/10/0379Genomic94 %
ss502666SC_JCM|AL023279.1_70180rev/BC/Tagaggagactgggagtcctccccctcaggaaactctgaggactctcagaggaactctgga07/12/0010/10/0387Genomicunknown
ss1277249KWOK|OVLP-000804-619887fwd/TA/Gtccagagttcctctgagagtcctcagagtttcctgagggggaggactcccagtctcctct09/02/0010/10/0386Genomic94 %
ss1653837KWOK|OVLP-000925-249843fwd/TA/Gtccagagttcctctgagagtcctcagagtttcctgagggggaggactcccagtctcctct10/05/0010/10/0387Genomic94 %
ss8180035SC_SNP|NT_011574.7_2384342byFreqfwd/TA/Gtccagagttcctctgagagtcctcagagtttcctgagggggaggactcccagtctcctct04/16/0305/16/04114Genomicunknown
ss24810918SEQUENOM|sqnm196745fwd/TA/Gtccagagttcctctgagagtcctcagagtttcctgagggggaggactcccagtctcctc06/18/0406/18/04123cDNAunknown
ss76896208SI_EXO|NT_011786.15_25204612fwd/TA/Gtccagagttcctctgagagtcctcagagtttcctgagggggaggactcccagtctcctct09/20/0709/20/07129Genomicunknown
ss94418370BCMHGSC_JDW|JWB-2709280fwd/TA/Gtccagagttcctctgagagtcctcagagtttcctgagggggaggactcccagtctcctct02/26/0803/06/08129Genomicunknown
ss115660055ILLUMINA-UK|NA18507_000077459_NCBI36.1_chrX_140820930fwd/TA/Gtccagagttcctctgagagtcctcagagtttcctgagggggaggactcccagtctcctct01/15/0901/15/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs176036|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGAGTTTCTC AGCTGAGGCC ACTGGCACTG TCCCTCTCTC CCTCAGTCCT GTGGGATCCC
 ATCATACCTA TTCGTGTTCA CACGTTTACC TGCTGCTCCT GAACAATATT CATCATGCCT
 CTCTTTCTAA ACCTTCCACG CCCCAGCTTT GAGCAAGGCT TCCAGAAGGC AATTTTCATA
 CTGGAGTTGG TAGATGCAGA GGATCCCCCA GATGAGGAAG AGGAGGAAGc ttcctccatt
 ttctcttcct ctttccactt tttattcccc tcgtcctcct cctgtttttc tttctcatcc
 tcatcctcct cTCTGCTTCT GCGTTCTCCA GGGGACAAGG ATATGCCTAC TGCTGGGATG
 CCGAGTCTTC TCCAGAGTTC CTCTGAGAGT CCTCAGAGTT
 R
 TCCTGAGGGG GAGGACTCCC AGTCTCCTCT CCAGATTCCC CAGAGTTCTC CTGAGAGCGA
 CGACACCCTG TATCCTCTCC AGAGTCCTCA GAGTCGTTCT GAGGGGGAGG ACTCCTCGGA
 TCCTCTCCAG AGACCTCCTG AGGGGAAGGA CTCCCAGTCT CCTCTCCAGA TTCCCCAGAG
 TTCTCCTGAG GGCGACGACA CCCAGTCTCC TCTCCAGAAT TCTCAGAGTT CTCCTGAGGG
 GAAGGACTCC CTGTCTCCTC TAGAGATTTC TCAGAGCCCT CCTGAGGGTG AGGATGTCCA
 GTCTCCTCTG CAGAATCCTG CGAGTTCCTT CTTCTCCTCT GCTTTATTGA GTATTTTCCA
 GAGTTCCCCT GAGAGTACTC AAAGTCCTTT TGAGGGTTTT

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
dbSTS GenBank
sqnm196745 NT_011786.15 AL022152 AL023279.1
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source HWP A
 G
ss8180035 CEPH 184 AF 0.320 0.680

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.435+/-0.168 0 0 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hit
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .