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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6537500          
refSNP ID: rs6537500
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
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
NT_017696.14:g.1154762G>T
XM_001128700.1:c.225+2297G>T
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 ss10598446 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6537500 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
ss10598446BCM_SSAHASNP|chr10.NT_017696.14_1154762byFreqfwd/BG/Tgttcccattatatgggctgcattttaattgtcagggaaatgctcagaaccctcccacctg06/29/0303/31/08116Genomicunknown
ss12074787WI_SSAHASNP|chr10.NT_017696.14_1154762fwd/BG/Tgttcccattatatgggctgcattttaattgtcagggaaatgctcagaaccctcccacctg07/04/0310/10/03116Genomicunknown
ss23724112PERLEGEN|afd4110033byFreqfwd/BG/Tgttcccattatatgggctgcattttaattgtcagggaaatgctcagaaccctcccacctg08/10/0409/13/04123Genomicunknown
ss66364477AFFY|SNP_A-2001128byFreqrev/TA/Cctgagcatttccctgacaattaaaatgcagcc10/29/0603/31/08127Genomicunknown
ss76085744AFFY|AFFY_6_1M_SNP_A-2001128rev/TA/Cctgagcatttccctgacaattaaaatgcagcc08/28/0708/29/07129Genomicunknown
ss88199500BCMHGSC_JDW|JWB-0274060fwd/BG/Tgttcccattatatgggctgcattttaattgtcagggaaatgctcagaaccctcccacctg02/26/0802/27/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6537500|allelePos=526|totalLen=1342|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 TATAACCTTT CCTCCACAAG AATGGCATAG TGACTTGCAT TTTTAATGAG TTTATGGCCA
 AGAGGGGCAT CTagtagtgt gctggggcca gctggtactg gctaatgaga accagttgtt
 aaatctttca agaactttga agccagttgt taaacacagc catcatcaac attaaaaata
 gtataaactt ataattaaat aaattatatt aaacatgaaa gtaataaata ctcaaacact
 ccacatccta attattttac tacattttaA GAcacagtgg cagcttgtta gagggcttgg
 tgggagtatt tacaccatgg taataagcaa aggctaaaac caggggcttc cccctccccg
 gccaggagca agtggttgaa tatttaccat cacactactg GGGGTTCCCA TAGGAGATGA
 CCTGAGCTAA CAGTGTGGCC GTGAATATAA ACTCTCAAGC AACCTGTTCC CCAATAATGC
 TAACTTTCTA GAACAGTTCC CATTATATGG GCTGCATTTT AATTG
 K
 TCAGGGAAAT GCTCAGAACC CTCCCACCTG CACAGGAGTC TGTCGTCCAA AAGACCACCA
 GGATCActaa atagtgaaaa ggagatcctt attggtgata gcagttgggg aactgtaaag
 agacagtctc tggcaagtac caagatgctc tgtctttgaa gaggggaagg gcaatttggg
 tttcacggct cacaaggctg gtatcctatg tatgcagcag gtttggggga aaagctgtac
 atatttatga ggagagtcaa gtgcatgcac agtgggtaaa catgtatgtc acatacatcc
 catgtttact ttgaggcagg gttttagcat taaaagaagt agaatttggc tttttatgac
 aaaaggtgaa ccatatgaca caaagacagt ttgtgcacag cctctgtaag ctgctgaaaa
 tggcttaagg tctgcaattg cttatcaaga aagaatgttg gtaagggcat cctctgtcca
 atcagagttg tagtgactgg gttgtaaata agacttggaa ggggtctgat agcaccattg
 ttagggagtt tggagccata ggaatataga gattactcat gccagccagg ccctgaacca
 acctgtaggt aactttgttt ccttaacctt ggtgtctgtc ttagttgata cagcggtgtt
 tattttgatc tttcagatta caAGTCGCAA TTTAGGAAGG GTGCTCCATC ATCATTTCAT
 GATTCTCACT ACAGCCCAGA CAGGTGGGCA GAGCAGTGTT CTTTCCCCTT TAATGAATGA
 AGAAGCTGAG CCTCAAACAG ATGAGGGGGC TTCCTG

  GeneView back to top
GeneView via analysis of contig annotation: LOC728883 hypothetical LOC728883
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_017696->XM_001128700
function
HuRefNW_001837975->XM_001715110
function
CeleraNW_924685->XM_001127767
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_017696->XM_001128700->XP_0011287001154762forwardintron
HuRefNW_001837975->XM_001715110->XP_001715162722524reverseintron
CeleraNW_924685->XM_001127767->XP_001127767978040forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6537500 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_924685.197804043935886plusGalt_assembly_1CeleraCeleraview525
10NW_001837975.272252444615039minusCalt_assembly_8HuRefHuRefview525
10NT_017696.14115476250020304plusGref_assemblyreferencereferenceview525

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_017696
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
G/T
HWPG
T
ss10598446HapMap-CEUEuropean 118IG 0.898 0.102 0.949 0.051
HapMap-HCBAsian 90IG 0.978 0.022 0.989 0.011
HapMap-JPTAsian 90IG 0.978 0.022 0.989 0.011
HapMap-YRISub-Saharan African 120IG 0.783 0.217 0.892 0.108
ss23724112AFD_EUR_PANELEuropean 48IG 0.958 0.042 1.000 0.979 0.021
AFD_AFR_PANELAfrican American 46IG 0.913 0.087 1.000 0.957 0.043
AFD_CHN_PANELAsian 48IG 1.000 1.000
ss66364477HapMap-CEUEuropean 118GF 0.898 0.102 0.949 0.051
HapMap-HCBAsian 90GF 0.978 0.022 0.989 0.011
HapMap-JPTAsian 90GF 1.000 1.000
HapMap-YRISub-Saharan African 120GF 0.783 0.217 0.892 0.108
Concordant GenotypeTotal SampleG/GG/T
ss1059844626924028
ss2372411271683
ss66364477268
RefSNP Genotype SummaryTotal IndividualG/GG/T
rs653750033229931
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
5194ss10598446G/TCSHL-HAPMAPHapMap-JPTNA18940JA18940r23_ch10_JPT_affymetrix:genechip500k
5194ss66364477C/CCSHL-HAPMAPHapMap-JPTNA18940JA18940chr10-HapMap-JPT
Genotype data submitted for341 samples from332 individualsIndividual with multiple genotypes submission:269

  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 .