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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs1145232          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:87/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NG_008648.1:g.75689G>A
NM_000534.3:c.1501G>A
NM_000534.4:c.1501G>A
NM_001128143.1:c.1384G>A
NM_001128144.1:c.1501G>A
NP_000525.1:p.Gly501Arg
NP_001121615.1:p.Gly462Arg
NP_001121616.1:p.Gly501Arg
NT_005403.16:g.40928916G>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 ss2781810 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1145232 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
ss1803642KWOK|OVLP-000925-663356fwd/TA/Gtcggaaatttctgcagatgagtggagcagggaaatatacttaaaaattcagtgggagaga10/05/0010/10/0387Genomic99 %
ss1842175KWOK|OVLP-000925-661968fwd/TA/Gtcggaaatttctgcagatgagtggagcagggaaatatacttaaaaattcagtgggagaga10/05/0010/10/0387Genomic97 %
ss2781810TSC-CSHL|TSC0939787byFreqfwd/TA/Gtcggaaatttctgcagatgagtggagcagggaaatatacttaaaaattcagtgggagaga01/02/0108/14/0792Genomicunknown
ss3567171SC_JCM|AC008122.15_63074fwd/TA/Gtcggaaatttctgcagatgagtggagcagggaaatatacttaaaaattcagtgggagaga09/24/0110/10/03100Genomicunknown
ss7986933EGP_SNPS|PMS1-082325fwd/TA/Gtcggaaatttctgcagatgagtggagcagggaaatatacttaaaaattcagtgggagaga04/04/0301/23/04114Genomicunknown
ss48421247APPLERA_GI|hCV15077byFreqrev/BC/Ttctctcccactgaatttttaagtatatttccctgctccactcatctgcagaaatttccga09/28/0511/03/06126Genomicunknown
ss74820718AFFY|SNP_M-323759fwd/TA/Gtcggaaatttctgcagatgagtggagcagggaaatatacttaaaaattcagtgggagaga08/09/0708/09/07128Genomicunknown
ss76862604CGM_KYOTO|2656fwd/TA/Gtcggaaatttctgcagatgagtggagcagggaaatatacttaaaaattcagtgggagaga09/12/0709/12/07129cDNAunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1145232|allelePos=320|totalLen=611|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GCATAATGAT GAATCTGGAA AAAACACTGA TGATTGTTTA AATCACCAGA TAAGTATTGG
 TGACTTTGGT TATGGTCATT GTAGTAGTGA AATTTCTAAC ATTGATAAAA ACACTAAGAA
 TGCATTTCAG GACATTTCAA TGAGTAATGT ATCATGGGAG AACTCTCAGA CGGAATATAG
 TAAAACTTGT TTTATAAGTT CCGTTAAGCA CACCCAGTCA GAAAATGGCA ATAAAGACCA
 TATAGATGAG AGTGGGGAAA ATGAGGAAGA AGCAGGTCTT GAAAACTCTT CGGAAATTTC
 TGCAGATGAG TGGAGCAGG
 R
 GAAATATACT TAAAAATTCA GTGGGAGAGA ATATTGAACC TGTGAAAATT TTAGTGCCTG
 AAAAAAGTTT ACCATGTAAA GTAAGTAATA ATAATTATCC AATCCCTGAA CAAATGAATC
 TTAATGAAGA TTCATGTAAC AAAAAATCAA ATGTAATAGA TAATAAATCT GGAAAAGTTA
 CAGCTTATGA TTTACTTAGC AATCGAGTAA TCAAGAAACC CATGTCAGCA AGTGCTCTTT
 TTGTTCAAGA TCATCGTCCT CAGTTTCTCA TAGAAAATCC TAAGACTAGT T

  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_005403.15 AC013468 AC013468.7 AC019178 AC019178.2
dbSNP Blast Analysis
UniGene Cluster ID
111749

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss2781810 CEPH 184 AF 1.000
HapMap-CEU European 114 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 86 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 114 IG 0.105 0.895 0.053 0.947
ss48421247 AGI_ASP population multiple 76 IG 0.026 0.026 0.947 0.001 0.039 0.961
ss7986933 PDR90 Global 176 IG 0.011 0.989 1.000 0.006 0.994

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.030+/-0.119 653 537 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
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .