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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs217068          
refSNP ID: rs217068
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:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_001814.2:c.318+3123T>G
NM_148170.2:c.318+3123T>G
NT_008984.17:g.326604A>C
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 ss1803593 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs217068 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
ss282700KWOK|OVLP-000621-229942fwd/TA/Cagaatactctctggtatgagggtcttagaaccataatcagattagagttctgcagtgggc06/30/0010/10/0379Genomic97 %
ss824833SC_JCM|AC011088.8_144427fwd/TA/Cagaatactctctggtatgagggtcttagaaccataatcagattagagttctgcagtgggc07/27/0010/10/0385Genomicunknown
ss1209349KWOK|OVLP-000804-114121fwd/TA/Cagaatactctctggtatgagggtcttagaaccataatcagattagagttctgcagtgggc09/02/0010/10/0386Genomic97 %
ss1803593KWOK|OVLP-000925-662594rev/BG/Tgcccactgcagaactctaatctgattatggttctaagaccctcataccagagagtattct10/05/0010/10/0387Genomic99 %
ss1842697KWOK|OVLP-000925-667388fwd/TA/Cagaatactctctggtatgagggtcttagaaccataatcagattagagttctgcagtgggc10/05/0010/10/0387Genomic97 %
ss15486023SC_SNP|NT_008984.16_326604fwd/TA/Cagaatactctctggtatgagggtcttagaaccataatcagattagagttctgcagtgggc11/14/0311/22/03120Genomicunknown
ss17447103CSHL-HAPMAP|CSHL-HuCC-200402.chr11.NT_008984.16_326604fwd/TA/Cagaatactctctggtatgagggtcttagaaccataatcagattagagttctgcagtgggc02/19/0403/04/04120Genomicunknown
ss39982381ABI|hCV1346345rev/BG/Tgcccactgcagaactctaatctgattatggttctaagaccctcataccagagagtattct07/16/0507/16/05126Genomicunknown
ss85059733HGSV|Cor19240_SNV_20070510.chr11_87704630fwd/TA/Cagaatactctctggtatgagggtcttagaaccataatcagattagagttctgcagtgggc11/30/0712/08/07130Genomicunknown
ss86113946HGSV|Cor18517_SNV_20070510.chr11_87704630fwd/TA/Cagaatactctctggtatgagggtcttagaaccataatcagattagagttctgcagtgggc12/06/0712/11/07130Genomicunknown
ss88679610BCMHGSC_JDW|JWB-0455759fwd/TA/Cagaatactctctggtatgagggtcttagaaccataatcagattagagttctgcagtgggc02/26/0802/27/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs217068|allelePos=953|totalLen=1298|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 TCTCTTTCAG ATAAGCCCTG AATAAACAGA ACTTAATAAA GCAAGTTTCT AGCAATAGGA
 GCTATTCTGA TTGATTCCGA AGTGGAATGC CGAGAATGGC AAAGAAGCTG TGTCTCTCCT
 GGTGAGATGC AGGATGCTGA GGGAAGCAGA AGGTAAAAGC AGGAGCCTAA AAGAATGCTG
 TGGTGTggaa aaactactca acgtgctttt tcctattctc agtcagcaac aacaatcaat
 acaaaagact tcggtgaccc caaaatatgt aggaagttct ccccaccagc aagcaagcaa
 tcaattctgc agcagacacc agctcagtgc cctccagtac aactccaatg ctacctacca
 ggagacagtt tcagatcccg taggttgagg gcttagtccc caagactgcc tgcccacttt
 agacaccagt ctcaagtcca ggcctccaga acttctgatg gactggcttc aaattggggt
 tcccataacc ccctctttgg gttcaattaa tttgacagag tggcataaaa actcagggaa
 acatgtttat gatttattac aaaggatatt tgaaaggata taaatacaca ggcacttgaa
 gagatacata gagcaagttc tggaagggtc ccagacacag gagcttctgt ccctgcggag
 ttagggtgga ccacccttcc agcatgatga gttcttcttc accttcctgt cagaccctac
 gtgtttagcg cttcagaatt ccctcaaatc tgttcttctt gggcttttat ggagcgttca
 ttgaatacac atgattaaag catggataac catgttaaaa tataattagg ttataaggac
 atgatctaaa cctaacaagg cctgtctgtt cagattcttc ttggtgtctc tgtgcagtgt
 tccttctgct atggtatggg gcagaatact ctctggtatg agggtcttag aa
 M
 ccataatcag attagagttc tgcagtgggc agatgaaagg agggtaggag aagatcagag
 agagagattc tggtttctgt aacaagggtc ttgggagtga gttatgagcc aggaaccatg
 gacaaaacct atatatgtca taacaTACAA ATACTCTGCA TGTACCAACT ACTCAACAAA
 CTCGAGCAGC AAGAACAATA AGAAACAATC TACTTCAAGC ATATCTGAAG CATATATAAA
 GAGGATAAAA GGAAGCAAGT TGTAGGGTTC CAGTCAGTGG AGAGGCGTGA AAATCCAATT
 GATTTGTAGG ATAACAACAA CGATGGCAGG TAAGCATGGC AAGAA

  GeneView back to top
GeneView via analysis of contig annotation: CTSC cathepsin C
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_008984->NM_148170
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_008984->NM_148170->NP_680475326604reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs217068 maps exactly once on NCBI human chromosome 11
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
11NW_001838029.2145039784303882minusGalt_assembly_8HuRefHuRefview952
11NW_925129.1145378186567129minusTalt_assembly_1CeleraCeleraview952
11NT_008984.1732660487704630plusAref_assemblyreferencereferenceview952

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008984 AC018775 AC018775.3 AP000795 AP000795.2 AP002497
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AP000795.5 AP002497.1

  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 .