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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs15967          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:cDNA
Created/Updated in build:52/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001130156.1:c.601C>A
NM_001130157.1:c.601C>A
NM_022443.3:c.676C>A
NP_001123628.1:p.Pro201Thr
NP_001123629.1:p.Pro201Thr
NP_071888.1:p.Pro226Thr
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 ss24780947 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs15967 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
ss18388CGAP-GAI|65060byFreqfwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt08/23/9910/25/0652cDNA99 %
ss1526884LEE|451458fwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt09/13/0010/10/03102cDNAunknown
ss3251308YUSUKE|IMS-JST061393byFreqrev/TA/Cactagaatgagaagtgttggccatgagaatctggctcccgagaacttaaaagaaggtaaa09/05/0110/10/03102Genomicunknown
ss4417116LEE|e451458fwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt04/26/0210/10/03108cDNAunknown
ss24381628PERLEGEN|afd3142869byFreqrev/TA/Cactagaatgagaagtgttggccatgagaatctggctcccgagaacttaaaagaaggtaaa08/10/0409/13/04130Genomicunknown
ss24780947SEQUENOM|sqnm7731fwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt06/18/0406/18/04130cDNAunknown
ss24793447SEQUENOM|sqnm110924fwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt06/18/0406/18/04130cDNAunknown
ss65730789ILLUMINA|Human1-rs15967fwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt10/10/0610/10/06130Genomicunknown
ss66640605ILLUMINA|HumanHap300v1.1_rs15967fwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt11/09/0611/09/06130Genomicunknown
ss67140259ILLUMINA|HumanHap550v1.1_rs15967fwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt11/14/0611/14/06130Genomicunknown
ss67481081ILLUMINA|HumanHap650Yv1.0_rs15967fwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt11/14/0611/14/06130Genomicunknown
ss68880531PERLEGEN|PGP03142869byFreqrev/TA/Cactagaatgagaagtgttggccatgagaatctggctcccgagaacttaaaagaaggtaaa01/30/0703/31/08130Genomicunknown
ss74816591AFFY|SNP_M-313007rev/TA/Cactagaatgagaagtgttggccatgagaatctggctcccgagaacttaaaagaaggtaaa08/09/0708/09/07130Genomicunknown
ss74894613ILLUMINA|ILMN_Human_1M_rs17629834rev/TA/Cactagaatgagaagtgttggccatgagaatctggctcccgagaacttaaaagaaggtaaa08/28/0708/29/07129Genomicunknown
ss83351271KRIBB_YJKIM|KHS441065fwd/BG/Ttctcccttcttttaagttctcgggagccagattctcatggccaacacttctcattctagt12/04/0712/04/07130Genomicunknown
ss92343089BCMHGSC_JDW|JWB-1688916rev/TA/Cactagaatgagaagtgttggccatgagaatctggctcccgagaacttaaaagaaggtaaa02/26/0803/02/08129Genomicunknown
ss1126184081000GENOMES|CEU.trio.12.15.2008_842600_chr3_159803397rev/TA/Cactagaatgagaagtgttggccatgagaatctggctcccgagaacttaaaagaaggtaaa12/15/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs15967|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='G/T'|mol=cDNA|build=130
 ATCAGAAGAA AGTTGCCAAG GACAGAACTG ATTTAACAGC AAGAGATTGG TCTTATGCTT
 ATTACCCAGC ACCATTACTA ACTGTTAAAA CAATCAAAAC TAAACAAATC AAATGCATGG
 CTATTTATTT TTTGTTGCTT TTCACAGATG AGCCTTTGAT GTGGAGTTTG TCCCCCAAAA
 CATTTGATCT CNTTCCATGT TCAATGGCTG GACTTTGTTG AGGTTTCTCC CTTCTTTTAA
 GTTCTCGGGA GCCAG
 K
 ATTCTCATGG CCAACACTTC TCATTCTAGT GTTTCCTAGA TTGTGTCGTC CTGGTTTGTA
 CTTCAAAACC TCACTTTGCC ACTCCTCATC AAAAGCATGA GCATCNCTTT CATTCATATT
 GATGAACTCC TGGTTGACCT CTTCATCTCC AGTCTTCTTG TTCTTTGACT TTTTAATGAC
 ATGAGCTCGG TCATGGATAT GATGACCAAT AGCCATTTTT TCTAGTCCAC TGTCAGAATC
 TCTCATTGCT TTCCT

  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
sqnm110924 sqnm7731 R50034 Hs.85195 L49054
dbSNP Blast Analysis
UniGene Cluster ID
85195

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source G/G
 G/T
 T/T
 HWP G
 T
ss18388 HapMap-CEU European 120 IG 0.317 0.533 0.150 0.479 0.583 0.417
HapMap-HCB Asian 90 IG 0.489 0.444 0.067 0.584 0.711 0.289
HapMap-JPT Asian 90 IG 0.489 0.378 0.133 0.678 0.322
HapMap-YRI Sub-Saharan African 120 IG 0.617 0.333 0.050 1.000 0.783 0.217
ss24381628 AFD_EUR_PANEL European 48 IG 0.292 0.500 0.208 1.000 0.542 0.458
AFD_AFR_PANEL African American 46 IG 0.522 0.391 0.087 1.000 0.717 0.283
AFD_CHN_PANEL Asian 48 IG 0.750 0.208 0.042 0.439 0.854 0.146
CHMJ Asian 74 IG 0.770 0.230
ss3251308 JBIC-allele 1490 AF 0.700 0.300
ss68880531 HapMap-CEU European 120 GF 0.317 0.533 0.150 0.583 0.417
HapMap-HCB Asian 90 GF 0.489 0.444 0.067 0.711 0.289
HapMap-JPT Asian 90 GF 0.489 0.378 0.133 0.678 0.322
HapMap-YRI Sub-Saharan African 120 GF 0.617 0.333 0.050 0.783 0.217

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.427+/-0.176 1186 1002 276 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .