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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs575306          
refSNP ID: rs575306
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/129
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_001737.2:c.477-3224C>T
NT_006576.15:g.39307897G>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 ss1936936 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs575306 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
ss746726SC_JCM|AC025471.3_90948fwd/TA/Ggaaataaacacttatttttgtatcactaagttttgacacaagctctccaccagtaagaca07/27/0010/10/0383Genomicunknown
ss1156993KWOK|OVLP-000804-486524fwd/TA/Ggaaataaacacttatttttgtatcactaagttttgacacaagctctccaccagtaagaca09/02/0010/10/03123Genomic99 %
ss1157945KWOK|OVLP-000804-489583fwd/TA/Ggaaataaacacttatttttgtatcactaagttttgacacaagctctccaccagtaagaca09/02/0010/10/0386Genomic99 %
ss1159729KWOK|OVLP-000804-497774fwd/TA/Ggaaataaacacttatttttgtatcactaagttttgacacaagctctccaccagtaagaca09/02/0010/10/03123Genomic99 %
ss1428231TSC-CSHL|TSC0289280rev/BC/Ttgtcttactggtggagagcttgtgtcaaaacttagtgatacaaaaataagtgtttatttc06/14/0110/10/03123Genomicunknown
ss1936236KWOK|OVLP-000925-739252fwd/TA/Ggaaataaacacttatttttgtatcactaagttttgacacaagctctccaccagtaagaca10/06/0010/10/0387Genomic99 %
ss1936936KWOK|OVLP-000925-743477byFreqfwd/TA/Ggaaataaacacttatttttgtatcactaagttttgacacaagctctccaccagtaagaca10/06/0010/25/06123Genomic99 %
ss3326022TSC-CSHL|TSC1524942rev/BC/Ttatgtcttacggtggagagctgtgtcaaaacttagtgatacaaaaataagtgtttatttc09/20/0110/10/03123Genomicunknown
ss5358829TSC-CSHL|TSC1524939rev/BC/Ttgtcttactggtggagagcttgtgtcaaaacttagtgatacaaaaataagtgtttatttc09/20/0210/10/03123Genomicunknown
ss5358978TSC-CSHL|TSC1524549rev/BC/Ttgtcttactggtggagagcttgtgtcaaaacttagtgatacaaaaataagtgtttatttc09/20/0210/10/03123Genomicunknown
ss23434733PERLEGEN|afd4353904byFreqfwd/TA/Ggaaataaacacttatttttgtatcactaagttttgacacaagctctccaccagtaagaca08/10/0409/13/04123Genomicunknown
ss42635977ABI|hCV1008548fwd/TA/Ggaaataaacacttatttttgtatcactaagttttgacacaagctctccaccagtaagaca07/18/0507/18/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs575306|allelePos=1968|totalLen=2168|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=126
 GCCTGTCCCA CCAAAATACC TTTCATGAAA AATGCTATGG CCTTAAAGTT CTAATATAGG
 GTCAAAAATT AGACCTATTA ATTTGAATAT GAGAAAAAAG aaaaaaacat tatatatttg
 atttattttt ttaaaCACCT TATTCCTCAT GATAAATTAA AATTTTTGTC CCAATCCTTT
 ACCCATCTCT GCATGTACAC CCTTGCCATG ACCTCATCAC CGGCAAAGta tacttccctc
 cctagtggct ttgtgcttgg ccatgtgact tactttaagc caatggcatg tagttgagag
 tgacagtggg ccagttcaaa gcaTGGGAAT GAAGAGGCCT CATTCATTGC TTTTGCTTTC
 GTGTATTTGT GCCATTGCCT TGAAAAGGGC TTCTAATGGG TAGCTGCTGC CCCTTCAACC
 TGGCTATCCC AGTGATCCCA GTGAAAAGCA GAACCACCCA GCTGTTGCAG CTTGAGGTGA
 AGCTCCCAGT GAAGCCCAGC CTTGTGAGAA ATAAACACTT ATAtctccct ctccctctcc
 ctctccctct ccctctccgt ctccctctcc gtctccctct cccctttcca tggtctcccc
 tctccctctc tttccacggt ctccctctca tgccgagcgg cagctggact gtactgccgc
 catcttggct cactgcagcc tccctgcctg attctcctgc ctcagcctgc cgagtgcctg
 cgattgcagg cgcgcaccgc cacgcctgac tggttttcgt atttttttgg tggagacggg
 gtttcgctgt gttggccggg ctggtctcca gctcctaacc gcgagtgatc cgccagcctt
 ggcctcctga gttgccggga ttgcagacag agtctcgtta actcagtgct caatggtgcc
 caggctggag tgcagtggcg tgatctcggc tcgctgcagc ctccacctcc cagccgcctg
 ccttggcccc ccaaagtgcc gagattgcag cctctgcccg gccgccaccc cgtctgggaa
 gtgaggagcg tctctgcctg gccgcccatc gtctgggatg tgaggagccc ctctgcctgg
 ctgcccagtc tggaaagtga ggagcctctc tgcccggccg ccatcccacc taggaagtga
 ggagcgcctc ttcccggccg ccatcccatc taggaagtga ggagcgtctc tgcccagcgg
 cccatcatct gagatgtggg gagcgcctca gccctgccgc cccgtctggg atgtgagaag
 cgcctctgcc cggccgcaac cccgtctggg aggagaggag cgtctctgcc cggccgcccc
 atctgagaag tgaggagacc ctctgcctgg caaccgcccc gtctgagaag tgaggagccc
 ctccgcccgg cagccgcccc gtctgagaag tgaggagccc ctccgcctgg ctgacacccc
 atctgggaag tgaggagcgt ctctgccagg cagccacccc gtccgggagg gaggtggggg
 ggtcagcccc ccgcccggcc agctgccccg tctgggaggt gaggggcgcc tctgcctggc
 cacccctact gggaagtgag gagcccctct gcccggccag ccgcccagtc cgggagggag
 gtggggcggt cagccccccg cctggccagc caccccgtcc gggaggtgag gggcgcctct
 gcccggccgc ccctactggg aagtgaggag cccctctgcc cggccgccac cccatctggg
 aggtgtgccc agcagctcat tgagaacggg ccatgatggc aatggcagtt ttgtggaata
 gaaaaagggg aaaggtgggg aaaagattga gaaatcagat ggttgctctg tctgtgtaga
 aagaagtaga catgggagac ttttcatttt gttctgtact aagaaaaatt cttctgcctt
 gggaAAAAAA AAAAAAAGAA ATAAACACTT ATTTTTGTAT CACTAAG
 R
 TTTTGACACA AGCTCTCCAC CAGTAAGACA TAAAATACTG GAAGCAAATG ACCTGGGTTG
 TTTCTTAAAC AAGATCTCAG CTACATTTTC TTTATATGAT AGTGAACTAC ATATCTGGTG
 TGGCTACTTT AACAGAGACA TTGTACCTCT TTATTTTCAG TGAACAATGA AATCAACTTT
 TGTTTATATT GATGATTAGC

  GeneView back to top
GeneView via analysis of contig annotation: C9 complement component 9
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_006576->NM_001737
svfunction
HuRefNW_001838933->NM_001737
svfunction
CeleraNW_922596->NM_001737
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_006576->NM_001737->NP_00172839307897reverseintron
HuRefNW_001838933->NM_001737->NP_0017283629364reverseintron
CeleraNW_922596->NM_001737->NP_0017284932584reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs575306 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
5NW_922596.1493258439222070plusGalt_assembly_1CeleraCeleraview1967
5NW_001838933.1362936439286753plusGalt_assembly_8HuRefHuRefview1967
5NT_006576.153930789739370897plusGref_assemblyreferencereferenceview1967

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000005.5 AC015575 AC015575.5 AC022135 AC025471.3
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC008846.7 AC025471.6 NC_000005.8 AC015575.5

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1936936HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 88IG 1.000 1.000
HapMap-JPTAsian 82IG 1.000 1.000
HapMap-YRISub-Saharan African 110IG 0.091 0.200 0.709 0.010 0.191 0.809
ss23434733AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 44IG 0.136 0.227 0.636 0.100 0.250 0.750
AFD_CHN_PANELAsian 46IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.112+/-0.20833226090

  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_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .