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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs152730          
refSNP ID: rs152730
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_000336.2:c.311+790T>G
NT_010393.15:g.14674100T>G
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 ss1964290 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs152730 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
ss227984KWOK|OVLP-000621-354692fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag06/30/0010/10/0379Genomic96 %
ss324628KWOK|OVLP-000621-34351fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag06/30/0010/10/0379Genomic99 %
ss631783SC_JCM|AC025273.2_118597fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag07/12/0010/10/0380Genomicunknown
ss891069KWOK|OVLP-000804-103713rev/TA/Cctgtgaagaggacagggactctgttttgttactgttgtatttgtgttgcctaggacagtg09/01/0010/10/0392Genomic99 %
ss1002006KWOK|OVLP-000804-100465fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag09/02/0010/10/0392Genomic97 %
ss1964290KWOK|OVLP-000925-679909fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag10/06/0010/10/0392Genomic97 %
ss12376616WI_SSAHASNP|chr16.NT_010393.13_14634239fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag07/04/0310/10/03116Genomicunknown
ss13399756SC_SNP|NT_010393.13_14634239fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag10/23/0310/31/03119Genomicunknown
ss14270848BCM_SSAHASNP|chr16.NT_010393.14_14673354fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag11/05/0311/22/03119Genomicunknown
ss21349524SSAHASNP|WGSA-200403-chr16.chr16.NT_010393.14_14673354fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag03/19/0403/19/04121Genomicunknown
ss40706812ABI|hCV2387912fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag07/17/0507/17/05126Genomicunknown
ss83346780HGSV|Cor18555_SNV_20070510.chr16_23268522fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag11/27/0712/04/07130Genomicunknown
ss90348304BCMHGSC_JDW|JWB-0931323fwd/BG/Tcactgtcctaggcaacacaaatacaacagtaacaaaacagagtccctgtcctcttcacag02/26/0802/29/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs152730|allelePos=838|totalLen=1604|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 GACCATGGAC TTCCCTGCCG TCACCATCTG CAATGCTAGC CCCTTCAAGT AGGTGGCCCC
 GGAGTGCACA GCTGGCCTCA GCAGACAGGC GGTTCTCTTT CTCTCTtttc ttcccttcta
 cctttccttt ccttcctttc cttccttctc ctttctctcc ttctctttat ttctcccctt
 tcttccttcc tttctccctt tattactttt ccttccttct tcttcccttt cttttttctt
 ttctttcttt ccttccttct ttctctttct cctcctctct gtctttcCAT TTGCCTTCAT
 CCTTTTGCAG CAACTAAGAT TCAAACTTCA TAAACTTTTg gccaggtgca gtggcctgta
 ataacagcac tttgagaggc aaagacagaa ggatcccttg aggccaggag ttggagaaca
 gcctgggcaa catagcaaga tcccacttct aaaaaaagta aataattttt tttaattagc
 cagacgtggt ggcacatgtc tgtggtctga gctgcatagg aagcagaggt gggagaactg
 cttgagccca ggagctcgag gctgcagtgg gctgagatgg cgccactTGA GTTTCAAGTC
 AAGGCTAAGa aaaaataatt aattaaaaat aaaaaCAAGA AGATgccact gcattccagc
 ctgggtaaca gatgctatct cttaaaaata aaaaaaTCAT AAGTTTCCTA GGCTTAGAGA
 GAACCTTGGG CACCCTCTGT CTTCAGGCAG GCCAGTGCCT atttatcgat tccacgcgtg
 tttacggagc acctactatg tgccaggcac tgtcctaggc aacacaaata caacagt
 K
 aacaaaacag agtccctgtc ctcttcacag cctgccagag caaacatgcc ccacaaaGTT
 GTCCCCACAA ATATCGAATT CATCATCATT ATGATGATAA AAAATAAAAC AACTCagccg
 ggcaccatgg ctcatacctg taatcccagc attttgagag gctgaggtgg gcagattact
 cgaggtcagg agtttgagac cagtctggcc aacatggtga aacctcaact ctactaaaaa
 tacaggcaat gcctgtaatc tcagctactt aggaggctga ggcacgagaa ttgcttgacc
 ccgagaggca gaggttatag tgagctgaga ttgcatcact gcactccagc ctgggcaaca
 gaacaagatc ctgtctcaaa aattaaaaaa taaataaata aaaCCACTCT TCAACAaatg
 cttatgatat gctaggcact gtgttcagtg ttctttggat aattggtgtc attctaatcc
 acacaaccac cctaggattg ggaactcctg tcgcagcccc agtttacagg tgaggagatg
 gaggttcaga gaagtaagtg agcttgcctg gagatgcaca gtggaagact gtgggatttg
 aatctaggcc tgatgtgatc ccagaactgc tactttttaa ccattCTTCC GGATTGCCCG
 TTCTCCATTC TCCGCTTGAT AGCAAGACCT GTGAAGGGGA CACAAGAGGA GACCCAACCT
 AGTCAGGGTT ATGGAGAGAC AGGGAGTCAG TCCAAAAACA AAAAAT

  GeneView back to top
GeneView via analysis of contig annotation: SCNN1B sodium channel, nonvoltage-gated 1, beta
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_010393->NM_000336
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010393->NM_000336->NP_00032714674100forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs152730 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_001838400.211078821449354minusCalt_assembly_8HuRefHuRefview837
16NW_926217.165850422138300plusGalt_assembly_1CeleraCeleraview837
16NT_010393.151467410023268522plusTref_assemblyreferencereferenceview837

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010393 AC002300 AC008915 AC025273.4
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceG/G
HWPG
ss1964290HapMap-CEUEuropean 118IG 1.000 1.000
HapMap-HCBAsian 88IG 1.000 1.000
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 118IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
27021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .