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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs430945          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:80/130
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
NM_001007565.1:c.632C>T
NM_006070.4:c.632C>T
NP_001007566.1:p.Ala211Val
NP_006061.2:p.Ala211Val
NT_005612.15:g.6950617C>T
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 ss571882 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs430945 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
ss571882SC_JCM|AC027080.2_23182byFreqfwd/TA/Gcctggtgggtgagctgctgaggaggaggaacaatgctgtggggtgttcctgaacgatctt07/12/0004/07/0480Genomicunknown
ss68869808PERLEGEN|PGP04752115rev/BC/Taagatcgttcaggaacacccgacagcattgttcctcctcctcagcagctcacccaccagg01/30/0701/30/07127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs430945|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=127
 TTTTTCCTGT GTTTAAGGCA TGACTAAATA CATGAAGTGT TTACAACAAT GCTGTAATAA
 ACACTTCTAC ACATGTACTT TCCCAAACAT GTGTTCTAAA CTCTATTTTA CCTTCAATCT
 GACCTGCTTG AGTCTGAGCT CCTGTATATG GTGGCTGCTG TGGCTGAACG CCTGGTGGGT
 GAGCTGCTGA GGAGGAGGAA
 R
 CAATGCTGTG GGGTGTTCCT GAACGATCTT CTGCAGGAGC ACTGGGTGGC CCTGGATAGT
 CAAAAAAAAG TCAGTTTAGT ATCCAACACA AGGCCTTCCC CCAGCAAGCT CAAGGAATAA
 GTTTGGTTAA AAGATACTAA AAGTACTATA GAATAAGTAT ATAACCACAA ATACGCCTTT
 TTACATTAAA TGTATGTACT

  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
NC_000003.9 AC022912
dbSNP Blast Analysis
UniGene Cluster ID
518123

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 G/G
 HWP A
 G
ss571882 SC_12_A Asian 22 IG 1.000 1.000
SC_12_AA African American 18 IG 1.000 1.000
SC_12_C European 14 IG 1.000 1.000
SC_95_C European 166 AF 0.949 0.051 0.001 0.020 0.980
CEPH 184 AF 1.000
HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 86 IG 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
ss68869808 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 1.000 1.000
Concordant Genotype Total Sample C/C C/T G/G
ss571882 564 39 253
RefSNP Genotype Summary Total Individual C/C C/T G/G
rs430945 598 39 253
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
114 ss571882 C/C TSC-CSHL SC_95_C CEPH1331.12 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
114 ss571882 G/G TSC-CSHL SC_12_C CEPH1331.12 TSC-SANGER-SC_12_C-Sep-18-2003-GENOTYPE
150 ss571882 C/T TSC-CSHL SC_95_C CEPH1334.01 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
150 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10846 CEPH1334.01 r27_ch3_CEU_bcm:genotype_0002
151 ss571882 C/C TSC-CSHL SC_95_C CEPH1334.02 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
151 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10847 CEPH1334.02 r27_ch3_CEU_bcm:genotype_0002
157 ss571882 C/C TSC-CSHL SC_95_C CEPH1334.10 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
157 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12144 CEPH1334.10 r27_ch3_CEU_bcm:genotype_0002
158 ss571882 C/C TSC-CSHL SC_95_C CEPH1334.11 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
158 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12145 CEPH1334.11 r27_ch3_CEU_bcm:genotype_0002
159 ss571882 C/C TSC-CSHL SC_95_C CEPH1334.12 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
159 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12146 CEPH1334.12 r27_ch3_CEU_bcm:genotype_0002
160 ss571882 C/T TSC-CSHL SC_95_C CEPH1334.13 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
160 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12239 CEPH1334.13 r27_ch3_CEU_bcm:genotype_0002
162 ss571882 C/C TSC-CSHL SC_95_C CEPH1340.02 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
162 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA07019 CEPH1340.02 r27_ch3_CEU_bcm:genotype_0002
169 ss571882 C/C TSC-CSHL SC_95_C CEPH1340.09 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
169 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA06994 CEPH1340.09 r27_ch3_CEU_bcm:genotype_0002
170 ss571882 C/C TSC-CSHL SC_95_C CEPH1340.10 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
170 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA07000 CEPH1340.10 r27_ch3_CEU_bcm:genotype_0002
171 ss571882 C/C TSC-CSHL SC_95_C CEPH1340.11 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
171 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA07022 CEPH1340.11 r27_ch3_CEU_bcm:genotype_0002
172 ss571882 C/C TSC-CSHL SC_95_C CEPH1340.12 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
172 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA07056 CEPH1340.12 r27_ch3_CEU_bcm:genotype_0002
174 ss571882 C/C TSC-CSHL SC_95_C CEPH1341.01 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
174 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA07048 CEPH1341.01 r27_ch3_CEU_bcm:genotype_0002
175 ss571882 C/C TSC-CSHL SC_95_C CEPH1341.02 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
175 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA06991 CEPH1341.02 r27_ch3_CEU_bcm:genotype_0002
184 ss571882 C/C TSC-CSHL SC_95_C CEPH1341.11 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
184 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA07034 CEPH1341.11 r27_ch3_CEU_bcm:genotype_0002
185 ss571882 C/C TSC-CSHL SC_95_C CEPH1341.12 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
185 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA07055 CEPH1341.12 r27_ch3_CEU_bcm:genotype_0002
186 ss571882 C/T TSC-CSHL SC_95_C CEPH1341.13 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
186 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA06993 CEPH1341.13 r27_ch3_CEU_bcm:genotype_0002
187 ss571882 C/C TSC-CSHL SC_95_C CEPH1341.14 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
187 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA06985 CEPH1341.14 r27_ch3_CEU_bcm:genotype_0002
215 ss571882 C/C TSC-CSHL SC_95_C CEPH1346.01 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
215 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10857 CEPH1346.01 r27_ch3_CEU_bcm:genotype_0002
226 ss571882 C/C TSC-CSHL SC_95_C CEPH1346.12 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
226 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12044 CEPH1346.12 r27_ch3_CEU_bcm:genotype_0002
230 ss571882 C/C TSC-CSHL SC_95_C CEPH1347.03 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
230 ss571882 G/G TSC-CSHL SC_12_C CEPH1347.03 TSC-SANGER-SC_12_C-Sep-18-2003-GENOTYPE
231 ss571882 C/C TSC-CSHL SC_95_C CEPH1347.04 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
231 ss571882 G/G TSC-CSHL SC_12_C CEPH1347.04 TSC-SANGER-SC_12_C-Sep-18-2003-GENOTYPE
238 ss571882 C/C TSC-CSHL SC_95_C CEPH1347.14 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
238 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA11881 CEPH1347.14 r27_ch3_CEU_bcm:genotype_0002
239 ss571882 C/C TSC-CSHL SC_95_C CEPH1347.15 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
239 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA11882 CEPH1347.15 r27_ch3_CEU_bcm:genotype_0002
348 ss571882 C/C TSC-CSHL SC_95_C CEPH1362.01 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
348 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10860 CEPH1362.01 r27_ch3_CEU_bcm:genotype_0002
349 ss571882 C/C TSC-CSHL SC_95_C CEPH1362.02 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
349 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10861 CEPH1362.02 r27_ch3_CEU_bcm:genotype_0002
360 ss571882 C/C TSC-CSHL SC_95_C CEPH1362.13 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
360 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA11992 CEPH1362.13 r27_ch3_CEU_bcm:genotype_0002
361 ss571882 C/C TSC-CSHL SC_95_C CEPH1362.14 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
361 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA11993 CEPH1362.14 r27_ch3_CEU_bcm:genotype_0002
362 ss571882 C/C TSC-CSHL SC_95_C CEPH1362.15 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
362 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA11994 CEPH1362.15 r27_ch3_CEU_bcm:genotype_0002
363 ss571882 C/C TSC-CSHL SC_95_C CEPH1362.16 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
363 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA11995 CEPH1362.16 r27_ch3_CEU_bcm:genotype_0002
399 ss571882 C/C TSC-CSHL SC_95_C CEPH1408.01 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
399 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10830 CEPH1408.01 r27_ch3_CEU_bcm:genotype_0002
400 ss571882 C/C TSC-CSHL SC_95_C CEPH1408.02 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
400 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10831 CEPH1408.02 r27_ch3_CEU_bcm:genotype_0002
408 ss571882 C/C TSC-CSHL SC_95_C CEPH1408.10 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
408 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12154 CEPH1408.10 r27_ch3_CEU_bcm:genotype_0002
410 ss571882 C/C TSC-CSHL SC_95_C CEPH1408.12 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
410 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12155 CEPH1408.12 r27_ch3_CEU_bcm:genotype_0002
411 ss571882 C/C TSC-CSHL SC_95_C CEPH1408.13 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
411 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12156 CEPH1408.13 r27_ch3_CEU_bcm:genotype_0002
429 ss571882 C/C TSC-CSHL SC_95_C CEPH1416.01 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
429 ss571882 G/G TSC-CSHL SC_12_C CEPH1416.01 TSC-SANGER-SC_12_C-Sep-18-2003-GENOTYPE
429 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10835 CEPH1416.01 r27_ch3_CEU_bcm:genotype_0002
430 ss571882 C/C TSC-CSHL SC_95_C CEPH1416.02 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
430 ss571882 G/G TSC-CSHL SC_12_C CEPH1416.02 TSC-SANGER-SC_12_C-Sep-18-2003-GENOTYPE
438 ss571882 C/C TSC-CSHL SC_95_C CEPH1416.11 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
438 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12248 CEPH1416.11 r27_ch3_CEU_bcm:genotype_0002
456 ss571882 C/C TSC-CSHL SC_95_C CEPH1420.01 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
456 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10838 CEPH1420.01 r27_ch3_CEU_bcm:genotype_0002
457 ss571882 C/C TSC-CSHL SC_95_C CEPH1420.02 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
457 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA10839 CEPH1420.02 r27_ch3_CEU_bcm:genotype_0002
464 ss571882 C/C TSC-CSHL SC_95_C CEPH1420.09 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
464 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12003 CEPH1420.09 r27_ch3_CEU_bcm:genotype_0002
465 ss571882 C/C TSC-CSHL SC_95_C CEPH1420.10 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
465 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12004 CEPH1420.10 r27_ch3_CEU_bcm:genotype_0002
466 ss571882 C/C TSC-CSHL SC_95_C CEPH1420.11 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
466 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12005 CEPH1420.11 r27_ch3_CEU_bcm:genotype_0002
467 ss571882 C/C TSC-CSHL SC_95_C CEPH1420.12 TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
467 ss571882 G/G CSHL-HAPMAP HapMap-CEU NA12006 CEPH1420.12 r27_ch3_CEU_bcm:genotype_0002
Genotype data submitted for656 samples from598 individualsIndividual with multiple genotypes submission:56

  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 UNKNOWN

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Revised: May 25, 2006 1:38 PM .