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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2157366          
refSNP ID: rs2157366
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/129
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_198270.2:c.566-116344A>G
NT_011757.15:g.15371201A>G
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 ss18050962 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2157366 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
ss3088598TSC-CSHL|TSC1187571fwd/TA/Ggagattcaacttcttcctggtttagtcttggagggtgtatgtgtacaggaatttatcaat06/07/0110/10/0396Genomicunknown
ss6116140SC_JCM|NT_011586.8_62106fwd/TA/Ggagattcaacttcttcctggtttagtcttggagggtgtatgtgtacaggaatttatcaat01/10/0310/10/03126Genomicunknown
ss8181442SC_SNP|NT_011586.9_62106fwd/TA/Ggagattcaacttcttcctggtttagtcttggagggtgtatgtgtacaggaatttatcaat04/16/0310/10/03126Genomicunknown
ss18050962CSHL-HAPMAP|CSHL-HuCC-200402.chrX.NT_011757.13_13556083fwd/TA/Ggagattcaacttcttcctggtttagtcttggagggtgtatgtgtacaggaatttatcaat02/19/0403/04/04120Genomicunknown
ss20397829CSHL-HAPMAP|CSHL-HuFF-200402.chrX.NT_011757.13_13556083fwd/TA/Ggagattcaacttcttcctggtttagtcttggagggtgtatgtgtacaggaatttatcaat02/21/0403/04/04120Genomicunknown
ss21056311SSAHASNP|WGSA-200403-chrX.chrX.NT_011757.13_13556083fwd/TA/Ggagattcaacttcttcctggtttagtcttggagggtgtatgtgtacaggaatttatcaat03/19/0403/19/04121Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2157366|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=126
 cgaaggcctt ttctgaatct attgagataa tcatgtggtt tttgtcattg gttctgttta
 tgtgacggat tgcatttatt gatttgcata tgttgaacca gccttgcatc ccaggggtga
 agccaacttg attgtggtgg ataagctttt tgatgcgctg ctggatttgg tttgccagta
 ttttattgag gattttccca ttgatgttca tcggggatac tggcctaaaa ttctcttttt
 tgttgtgtct ccatcaggct ttggtatcag gatgatgctg gcctcataaa atgagttagg
 gaggattccc tctttttctg ttgtttggaa tagtttcaga aggaatggca ccagctcctc
 tttgtacctc tggtagaatt cggctgtgaa tccatctggt cctgtatttg ttttgattgg
 taggctagta attattgcct caatttcaga acctgttatt ggtctattca gagattcaac
 ttcttcctgg tttagtcttg
 R
 gagggtgtat gtgtacagga atttatcaat ttcttccaga ttttctagtt tatttgtgta
 gaggtgttta tagtattgtc tgatggtagt ttgtatttct gtgggattgg tggtggtatc
 ccctttatca ttttttattg catctatttg attcttctct cttttcttta ttagtcttgc
 tagtggtcta tctgttttgt tgatcttttc aaaaaaccag ctcctggatt cattgatttt
 ttgaaggggt ttttgtgtct ctatctcctt cagttctgct ctgatcttag ttatttcttg
 tcttctgcta gcttttgaat gtgtttgctc ttgcttctct agttctttta attgtgatgt
 tagggtgttg attttagatc attcctgctt tctcttgtgg gcatttagtg ctataaattt
 tcctctacac actgcttaaa tgtgtcccag aggttctggt acattgtgtc tttgttctta
 ttggtttcaa agaacatctt

  GeneView back to top
GeneView via analysis of contig annotation: NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
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_011757->NM_198270
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011757->NM_198270->NP_93801115371201forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2157366 maps exactly once on NCBI human chromosome X
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
9NW_001839229.137227464524926plusGalt_assembly_8HuRefHuRefview500
XNT_011757.151537120117499439plusAref_assemblyreferencereferenceview500
XNW_927700.11610711821708836plusGalt_assembly_1CeleraCeleraview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011757
dbSNP Blast Analysis
GenBank HTGS Finished:
Z93022.1

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .