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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs197431          
refSNP ID: rs197431
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:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_019099.3:c.*1165G>C
NM_198926.1:c.*1165G>C
NT_019273.18:g.8176110C>G
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 ss61714990 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs197431 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
ss259807KWOK|OVLP-000621-102489fwd/BC/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa06/30/0010/10/0379Genomic97 %
ss728062SC_JCM|AL049557.1_77244fwd/BC/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa07/27/0010/10/0387Genomicunknown
ss1206011KWOK|OVLP-000804-76143fwd/BC/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa09/02/0010/10/0386Genomic97 %
ss1950867KWOK|OVLP-000925-248444fwd/BC/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa10/06/0010/10/0387Genomic97 %
ss9882109BCM_SSAHASNP|chr1.NT_019273.15_2706239fwd/BC/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa06/27/0310/10/03116Genomicunknown
ss17331276CSHL-HAPMAP|CSHL-HuCC-200402.chr1.NT_019273.16_3264373fwd/BC/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa02/19/0403/04/04120Genomicunknown
ss41079774ABI|hCV26823046fwd/C/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa07/16/0507/17/05126Genomicunknown
ss61714990SI_EXO|NT_019273.17_8354540fwd/C/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa07/11/0608/17/06127Genomicunknown
ss85525770HGSV|Cor19129_SNV_20070510.chr1_111980467fwd/C/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa12/06/0712/09/07130Genomicunknown
ss87718036BCMHGSC_JDW|JWB-0106053fwd/C/Ggccaggctggagtgcagtggcatgatctcgctcactgcaacctccctctcccgggctcaa02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs197431|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 CCCAGGGCAG TCCTGGGGGG GGGCCTGGAT CACTAGGTGG CCCTCCTGGG CCACGTGCCC
 AGAGTGGCTT TAGAGAAGCC GGAGCTGAGC TGCTGCCTGG CCCTTCCCCC TCCGTCCCGG
 CTGCCTCTAG GTGAGGAGGG AACAGGAGGC CTGGGACTGC TGTGTCTAGT GGGGAGAAGG
 CCACGGAATG GAGCTGGGAA TTTTAAAATC AAGTGGCTAT TTCTTCTGGG TTCACTTCTA
 CCTCACTGGT GAATTGGCTG TTCTCTGACC CAGGTGGGAG TTAAGTGCAG GAGACAGGGG
 TTGTGGGGTA TGGGGCCCTA CGAACTGTTT TTTTTTATTT TTTTTGAGAC AGGGGAGTCT
 TGCTCTGTCA GCCAGGCTGG AGTGCAGTGG CATGATCTCG
 S
 CTCACTGCAA CCTCCCTCTC CCGGGCTCAA GCAATTCTCC TGCCTCAGCC TCCCAAGTAG
 CTGGGTTTAC AGGCGTGTGC CACCACGCCT GGCTAATTTT TACGTATTTT TTTAGTAGAG
 ACGGGGTTTC ACCATGTTGG CCAGGCTGGT CATGAACTCC TGACCCCAGG TAATCCGCCT
 GCCTTGCCCT CCCAAAGTGC TGGGATTACA GGCGTGAGCC ACAGCGCCCA GCCTGCGGGG
 TGCTAAGAAC TGTTGGGGAG GAGTGTTGGT AACTCCAGGG TCCAGCTTCT ACTCTGCAGT
 TAGACCTAGG CTGTTCTGCC TCCTGGCTGC AGTTGTTCCT GGACATGTAG CATATCTAGG
 CTTGTTTCCT TATCTGGAAA ATGGGATCAT GCCTGCCTGC

  GeneView back to top
GeneView via analysis of contig annotation: C1orf183 chromosome 1 open reading frame 183
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_019273->NM_019099
function
referenceNT_019273->NM_198926
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_019273->NM_019099->8176110reverse22173' UTR
referenceNT_019273->NM_198926->8176110reverse20993' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs197431 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_001838594.13389110110139804plusCalt_assembly_8HuRefHuRefview400
1NW_922462.13233248110515037plusGalt_assembly_1CeleraCeleraview400
1NT_019273.188176110112069948plusCref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_019273.17 AC022181 AL049557.19
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:
NM_019099.3 NM_198926.1 AL049557.19
UniGene Cluster ID
485810

  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 .