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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs13014235          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/130
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_001127391.1:c.127G>C
NM_139163.1:c.127C>G
NM_139163.2:c.127G>C
NP_001120863.1:p.Val43Leu
NP_631902.2:p.Val43Leu
NT_005403.16:g.52424909C>G
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 ss21667329 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13014235 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
ss21667329SSAHASNP|WGSA-200403-chr2.chr2.NT_005403.14_52424908byFreqfwd/BC/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa03/20/0410/26/06121Genomicunknown
ss24646639PERLEGEN|afd1406528byFreqfwd/BC/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa08/10/0409/13/04123Genomicunknown
ss28511229MGC_GENOME_DIFF|BC031603x37551287-C52424908Gfwd/BC/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa08/25/0408/25/04126cDNAunknown
ss41685058ABI|hCV30787107fwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa07/17/0507/17/05126Genomicunknown
ss66095969AFFY|SNP_A-1961401byFreqfwd/BC/Gttttttggagctggtaaagaggagttagcctg10/27/0603/31/08127Genomicunknown
ss68839989PERLEGEN|PGP01406528byFreqfwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa01/30/0703/31/08127Genomicunknown
ss76056408AFFY|AFFY_6_1M_SNP_A-1961401fwd/C/Gttttttggagctggtaaagaggagttagcctg08/28/0708/29/07129Genomicunknown
ss77704215HGSV|Cor12156_SNV_20070510.chr2_202040998fwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa10/09/0710/14/07129Genomicunknown
ss83028100KRIBB_YJKIM|KHS379170fwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa11/30/0712/04/07130Genomicunknown
ss83883247HGSV|Cor18555_SNV_20070510.chr2_202040998fwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa11/27/0712/06/07130Genomicunknown
ss91510573BCMHGSC_JDW|JWB-1369783fwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa02/26/0803/01/08129Genomicunknown
ss96464541HUMANGENOME_JCVI|1103658337798fwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa03/26/0803/26/08130Genomicunknown
ss1105848701000GENOMES|CEU.trio.12.15.2008_561578_chr2_201923737fwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa12/15/0812/17/08130Genomicunknown
ss1115188371000GENOMES|NA19240_2008_12_16_504275_chr2_201923737fwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa12/16/0812/17/08130Genomicunknown
ss118041994ILLUMINA-UK|NA18507_000244379_NCBI36.1_chr2_201923737fwd/C/Gggaggtaattgtgattttttggagctggtaaagaggagttagcctgaaagtgaaaaacaa01/19/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs13014235|allelePos=501|totalLen=701|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 cagctactca ggaggctaag gcaggagaat cgtttgaacc agggaggtgg aggttggaat
 gagccaagat ggcaccactg cgctccagcc tgggtgacag agcaagactc catctcaaac
 aaacaaaCTG CTTggtgcag tggctcacac ctgtaatccc aacactttgg gaggctcagg
 cgggtggatt gcctgagttc aggagttcaa gaccaccctg ggcaatgtgg tgaaaccccg
 tctctactaa aatacaaaaa agtagccagg catggtggcg cgcacacctg tattcccagc
 tactcgagag gctgaggcag gagaatcgct tgagactggg aggcagaggt tgcagtgagc
 caaggttaca ccactgcact ctagcctggg caacagagtg agactccatc tcaaaaacaa
 aacaaaacaa aacaaTACTT ACTTTGGGGA AACAACAGGT TTTGTTGGTT GGAGGTAATT
 GTGATTTTTT GGAGCTGGTA
 S
 AAGAGGAGTT AGCCTGAAAG TGAAAAACAA ATAACTAAAA CAAGAACATT GGAAATTCGG
 AAACCCTTTT TAACACTCCC AGATTAAGTA CATCCCTATA GTGACCCAAA ATTGGAATGC
 ATGATCTGAT AGCTGGAATC TTTAAAATCT GAGGCCTTTA AAACTCAGGC CCAAGGCCCT
 GGCACTTGTT CACTGTCCCA

  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
GenBank
NT_005403 ABBA01062539 BC031603
dbSNP Blast Analysis
UniGene Cluster ID
107944

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/G
 G/G
 HWP C
 G
ss21667329 HapMap-CEU European 118 IG 0.271 0.424 0.305 0.251 0.483 0.517
HapMap-HCB Asian 88 IG 0.068 0.295 0.636 0.403 0.216 0.784
HapMap-JPT Asian 86 IG 0.093 0.372 0.535 0.655 0.279 0.721
HapMap-YRI Sub-Saharan African 120 IG 0.317 0.683 0.150 0.158 0.842
CHMJ Asian 74 IG 0.297 0.703
ss24646639 AFD_EUR_PANEL European 48 IG 0.250 0.542 0.208 0.752 0.521 0.479
AFD_AFR_PANEL African American 44 IG 0.318 0.682 0.403 0.159 0.841
AFD_CHN_PANEL Asian 48 IG 0.375 0.625 0.273 0.188 0.812
ss66095969 HapMap-CEU European 118 GF 0.288 0.424 0.288 0.500 0.500
HapMap-HCB Asian 90 GF 0.067 0.311 0.622 0.222 0.778
HapMap-JPT Asian 90 GF 0.089 0.400 0.511 0.289 0.711
HapMap-YRI Sub-Saharan African 120 GF 0.317 0.683 0.158 0.842
ss68839989 HapMap-CEU European 120 GF 0.283 0.417 0.300 0.492 0.508
HapMap-HCB Asian 90 GF 0.067 0.311 0.622 0.222 0.778
HapMap-JPT Asian 90 GF 0.089 0.400 0.511 0.289 0.711
HapMap-YRI Sub-Saharan African 120 GF 0.317 0.683 0.158 0.842
ss76056408 ICMHP 10 IG 0.200 0.800 0.200 0.800

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.414+/-0.189 1192 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 .