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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs605059          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_000413.1:c.937A>G
NP_000404.1:p.Ser313Gly
NT_010755.15:g.4431202G>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 ss16745938 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs605059 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
ss777110SC_JCM|AC067852.3_7053byFreqfwd/BC/Tgatcgccgagctcagggtcccccaccgcacgcgcccggcctcgtcctctgccccaggccc07/27/0004/07/0483Genomicunknown
ss3176234WICVAR|WI-18240byFreqrev/TA/Ggggcctggggcagaggacgaggccgggcgcgtgcggtgggggaccctgagctcggcgatc06/28/0104/07/0498cDNAunknown
ss4322742CGAP-GAI|266343rev/TA/Ggggcctggggcagaggacgaggccgggcgcgtgcggtgggggaccctgagctcggcgatc11/28/0110/10/03102cDNAunknown
ss16230980CGAP-GAI|1470099rev/TA/Ggggcctggggcagaggacgaggccgggcgcgtgcggtgggggaccctgagctcggcgatc11/18/0311/22/03120cDNAunknown
ss16745938CSHL-HAPMAP|CSHL-HuAA-200402.chr17.NT_010755.14_4429404byFreqrev/TA/Ggggcctggggcagaggacgaggccgggcgcgtgcggtgggggaccctgagctcggcgatc02/17/0405/16/04120Genomicunknown
ss21373948SSAHASNP|WGSA-200403-chr17.chr17.NT_010755.14_4429404rev/TA/Ggggcctggggcagaggacgaggccgggcgcgtgcggtgggggaccctgagctcggcgatc03/19/0403/19/04121Genomicunknown
ss85061257HGSV|Cor19129_SNV_20070510.chr17_37960432rev/TA/Ggggcctggggcagaggacgaggccgggcgcgtgcggtgggggaccctgagctcggcgatc12/06/0712/08/07130Genomicunknown
ss90590146BCMHGSC_JDW|JWB-1022226rev/TA/Ggggcctggggcagaggacgaggccgggcgcgtgcggtgggggaccctgagctcggcgatc02/26/0802/29/08129Genomicunknown
ss96546207HUMANGENOME_JCVI|1103645326583rev/TA/Ggggcctggggcagaggacgaggccgggcgcgtgcggtgggggaccctgagctcggcgatc03/26/0803/26/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs605059|allelePos=444|totalLen=689|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TTGGTTCATT TGATTAATTg acagggtctc actctgtcac ccaggctgga gtgcagtggc
 cccatcatgc tcactgcacc ctccaactcc tgggctcaag gaatggtgcc actgtgctga
 tttttaaatt ttctttattt ttgtagagat gggggtctca ctgtgttgct ctggctggtc
 tccaactccg gggcttgagc gatcctcctg cctccgcctc ccaaagcgct ggcattacag
 gcgacagcca tcgcgcctag ctGCGCTGGT AAAACTGGCT AACGCGATCT ATCTTAATTA
 GCCACCCACA GCTGCTACCG CCGCCCCATC CCCAGGGACC ACACAGACCC AGGGGACAAA
 GAAGGGCGCG GGAGACAGCG GCTGAGGAAG CCTTTACTGC GGGGCGGCCG GAGGATCGCC
 GAGCTCAGGG TCCCCCACCG CAC
 Y
 GCGCCCGGCC TCGTCCTCTg ccccaggccc ggccccgccc ccagcctcgg ccccagcctc
 ggccTTTGCC GGAACGTCGC CGAACACTTC CCGGTGCATG GCGGTGACGT AGTTGGAGCC
 GCTGGGGTCG TCCAGGCGCA TCCGCAGCAG GGGCAGGAAG CGCTCGGTGG TGAAGTAGCG
 CAGGGTCGGC TTCGGGGCGC GCAAAGCGGT GAGGAAGACC TGCGGCGGCG GGAGGAGAGC
 TGTGG

  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
CGAP-C-26634 NT_010755 ABBA01006421 BM564741 U34879
dbSNP Blast Analysis
UniGene Cluster ID
500159

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss16745938 CEPH 184 AF 0.270 0.730
ss3176234 MITOGPOP6 multiple 56 IG 0.250 0.071 0.679 0.001 0.286 0.714
ss777110 SC_12_A Asian 24 IG 0.083 0.583 0.333 0.403 0.375 0.625
SC_12_AA African American 24 IG 0.417 0.500 0.083 0.752 0.667 0.333
SC_12_C European 14 IG 0.143 0.571 0.286 0.752 0.429 0.571

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.479+/-0.100 65 51 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 YES YES

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Revised: May 25, 2006 1:38 PM .