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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs6577          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:52/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_000846.3:c.629A>C
NP_000837.2:p.Glu210Ala
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 ss48412471 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6577 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
ss8249CGAP-GAI|47733fwd/TA/Cctggcagcccaaggaagcctcccatggatggaaatctttagaagaatcaaggaagatttt08/23/9910/10/0352cDNA99 %
ss869782UWGC|hgsta2-e7+f83byFreqfwd/TA/Cctggcagcccaaggaagcctcccatggatggaaatctttagaagaatcaaggaagatttt09/12/0104/07/04103Genomicunknown
ss1527941LEE|478781fwd/TA/Cctggcagcccaaggaagcctcccatggatggaaatctttagaagaagcaaggaagatttt09/13/0010/10/03102cDNAunknown
ss1528201LEE|483741fwd/TA/Cggcagccccaaggaagccctcccatggatggaaatctttagaagaagcaaggaagatttt09/13/0010/10/03102cDNAunknown
ss3671245SC_JCM|AC021133.5_26526byFreqrev/BG/Taaaatcttccttgattcttctaaagatttccatccatgggaggcttccttgggctgccag09/24/0105/16/04103Genomicunknown
ss4395142LEE|ge478781fwd/TA/Cctggcagcccaaggaagcctcccatggatggaaatctttagaagaatcaaggaagatttt04/25/0210/10/03106cDNAunknown
ss4417877LEE|e478781fwd/TA/Cctggcagcccaaggaagcctcccatggatggaaatctttagaagaagcaaggaagatttt04/26/0210/10/03106cDNAunknown
ss11839586WI_SSAHASNP|chr6.NT_007592.13_43412523rev/BG/Taaaatcttccttgattcttctaaagatttccatccatgggaggcttccttgggctgccag07/04/0310/10/03116Genomicunknown
ss16266079CGAP-GAI|1532557fwd/TA/Cctggcagcccaaggaagcctcccatggatggaaatctttagaagaatcaaggaagatttt11/18/0311/22/03120cDNAunknown
ss48412471APPLERA_GI|hCV12027651byFreqrev/BG/Taaaatcttccttgattcttctaaagatttccatccatgggaggcttccttgggctgccag09/28/0511/03/06126Genomicunknown
ss74820000AFFY|SNP_M-322044fwd/TA/Cctggcagcccaaggaagcctcccatggatggaaatctttagaagaatcaaggaagatttt08/09/0708/09/07128Genomicunknown
ss80852950HGSV|Cor18507_SNV_20070510.chr6_52723374rev/BG/Taaaatcttccttgattcttctaaagatttccatccatgggaggcttccttgggctgccag11/26/0711/27/07130Genomicunknown
ss84168940PHARMGKB_AB_DME|PS206042_PA147533915_301rev/BG/Taaaatcttccttgattcttctaaagatttccatccatgggaggcttccttgggctgccag12/06/0712/09/07130Genomicunknown
ss84726822HGSV|Cor19240_SNV_20070510.chr6_52723374rev/BG/Taaaatcttccttgattcttctaaagatttccatccatgggaggcttccttgggctgccag11/30/0712/07/07130Genomicunknown
ss104313392BGI|BGI_rs6577rev/BG/Taaaatcttccttgattcttctaaagatttccatccatgggaggcttccttgggctgccag06/08/0806/19/09130Genomicunknown
ss105440115SNP500CANCER|GSTA2-09fwd/TA/Cctggcagcccaaggaagcctcccatggatggaaatctttagaagaatcaaggaagatttt09/05/0809/05/08130Genomicunknown
ss1143705841000GENOMES|NA19240_2008_12_16_1363723_chr6_52723374rev/BG/Taaaatcttccttgattcttctaaagatttccatccatgggaggcttccttgggctgccag12/18/0812/18/08130Genomicunknown
ss116468979ILLUMINA-UK|NA18507_000078114_NCBI36.1_chr6_52723374rev/BG/Taaaatcttccttgattcttctaaagatttccatccatgggaggcttccttgggctgccag01/17/0901/17/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6577|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 CTGATTAAAA TTTCAAGACA TCTTTGGGGA AAATAAAGTG AGCTACATGT TCTTCCTCTT
 ATCTTCCTTT CTCACTGGGT GTCTGTTTCT GCCTTCACCC AAGTGGAAGC GACTCACTTG
 GTCTTTGGCA GGAGGGACTC AGATTCCCTG GGTCATGTTA ATGGGGGTGT CAGCCCTTGA
 CTTGTTGTTT TAGTGAGGCT GTGCTTTGTG GATTACAGGC CCTGAAAACC AGAATCAGTA
 ACCTGCCCAC AGTGAAGAAG TTTCTACAGC CTGGCAGCCC AAGGAAGCCT CCCATGGATG
 M
 GAAATCTTTA GAAGAATCAA GGAAGATTTT CAGGTTTTAA TAAACCAGCC ATAGAGGTCA
 AGAACATGCA AGACCAGTAT TCTAAAGTTT TGCAACAATT AAGTGCTTTA CCTAAGTGTT
 GATTGTGCCT GTTGTGAAGC TAATGAACTC TTTCAAATTA TATGCTAATT AAATAATACA
 ACTCCTATTC ACCCACTTAG TTAAAATTGA TTTCTTCTCA TTAGGATCTG ATGTGAATTC
 AGTTTTCCAA TCTCCTCCTA GCCAACAATT TTCTTGGAAT TACAAATTCA GTAAAAATGG

  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
S45640 AL109918 BI762502 Hs.89552 NM_000846
dbSNP Blast Analysis
UniGene Cluster ID
94107

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source A/A
A/C
C/C
HWP A
C
ss105440115 P1 204 GF 0.657 0.225 0.118 0.770 0.230
CAUC1 62 GF 0.839 0.161 0.919 0.081
AFR1 48 GF 0.167 0.375 0.458 0.354 0.646
HISP1 46 GF 0.783 0.217 0.891 0.109
PAC1 48 GF 0.792 0.167 0.042 0.875 0.125
P2 384 GF 0.526 0.260 0.214 0.656 0.344
CAUC2 110 GF 0.836 0.127 0.036 0.900 0.100
AFR2 110 GF 0.036 0.364 0.600 0.218 0.782
P3 556 GF 0.647 0.201 0.151 0.748 0.252
CAUC3 130 GF 0.877 0.123 0.938 0.062
AFR3 150 GF 0.067 0.387 0.547 0.260 0.740
HISP3 98 GF 0.980 0.020 0.990 0.010
PAC3 178 GF 0.787 0.202 0.011 0.888 0.112
ASI2 164 GF 0.646 0.280 0.073 0.787 0.213
ss3671245 CEPH 184 AF 0.920 0.080
ss48412471 HapMap-CEU European 120 IG 0.867 0.133 0.584 0.933 0.067
HapMap-HCB Asian 84 IG 0.619 0.357 0.024 0.527 0.798 0.202
HapMap-JPT Asian 86 IG 0.605 0.256 0.140 0.025 0.733 0.267
HapMap-YRI Sub-Saharan African 120 IG 0.033 0.383 0.583 0.479 0.225 0.775
AGI_ASP population multiple 78 IG 0.487 0.308 0.205 0.050 0.641 0.359
ss84168940 PA147533916 356 AF 0.694 0.306
ss869782 NIHPDR Global 78 IG 0.487 0.436 0.077 1.000 0.705 0.295

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.412+/-0.190 603 487 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
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .