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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2070607          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/130
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_002541.2:c.3052G>A
NP_002532.2:p.Val1018Ile
NT_007819.16:g.44236536G>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 ss86346501 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2070607 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
ss2983903YUSUKE|IMS-JST005524fwd/TA/Gcgcctcctggacacggccttcgacctggactcttcaagaacttctcgtagatgctgccta05/24/0110/10/0396Genomicunknown
ss3185741HGBASE|SNP000571325fwd/TA/Gcctggacacggccttcgacctggactcttcaagaacttctcgtagatgct07/09/0110/10/0398Genomicunknown
ss23970707PERLEGEN|afd4509607byFreqfwd/TA/Gcgcctcctggacacggccttcgacctggactcttcaagaacttctcgtagatgctgccta08/10/0409/13/04123Genomicunknown
ss69014688PERLEGEN|PGP04509607byFreqfwd/TA/Gcgcctcctggacacggccttcgacctggactcttcaagaacttctcgtagatgctgccta01/30/0708/14/07127Genomicunknown
ss74870567ILLUMINA|ILMN_Human_1M_rs2070607fwd/TA/Gcgcctcctggacacggccttcgacctggactcttcaagaacttctcgtagatgctgccta08/28/0708/29/07129Genomicunknown
ss86346501CANCER-GENOME|22335fwd/TA/Gcgcctcctggacacggccttcgacctggactcttcaagaacttctcgtagatgctgccta01/25/0801/25/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2070607|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 CTCAGGCCAG TAGGCAGTTA GCCAGGCACA TGCAGCAGAG GGATGGGCTG GGCCAACTCA
 GTGTCCCCTG CCCTCACTGC CCCCTCCCTC CATCTCTCAG GTATGCCGGC CGGGACCCAG
 CGGCTGCTCC AGCCACCGGC AACAAGAAGA CCCACCTGAC GGAGCTGCAG CGCCTCCTGG
 ACACGGCCTT CGACCTGGAC
 R
 TCTTCAAGAA CTTCTCGTAG ATGCTGCCTA GGGTTGCTTG GGCCACTGCC CTCTCCACAC
 CCATGACTGC CCCTTGCTTC TCAACTAAAG AATAGTGCCT CAGCGCTGCC CACACCACCG
 CCCTCCTCGC TGTGCCACCA CCCCTCCCTC TGCTCTCATA GGAGTTAGGC TGTCGTCCCC
 CTCCAGTGCT TGGCTGCCCC

  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_000007.8
dbSNP Blast Analysis
UniGene Cluster ID
488181

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/G
 G/G
 HWP A
 G
ss23970707 AFD_EUR_PANEL European 48 IG 0.042 0.958 1.000 0.021 0.979
AFD_AFR_PANEL African American 44 IG 1.000 1.000
AFD_CHN_PANEL Asian 46 IG 0.130 0.870 0.752 0.065 0.935
HapMap-CEU European 120 IG 0.050 0.950 1.000 0.025 0.975
HapMap-HCB Asian 90 IG 0.111 0.889 0.752 0.056 0.944
HapMap-JPT Asian 88 IG 0.068 0.932 1.000 0.034 0.966
HapMap-YRI Sub-Saharan African 120 IG 0.017 0.983 1.000 0.008 0.992
ss69014688 HapMap-CEU European 120 GF 0.467 0.533 0.233 0.767
HapMap-HCB Asian 90 GF 0.533 0.467 0.267 0.733
HapMap-JPT Asian 90 GF 0.578 0.422 0.289 0.711
HapMap-YRI Sub-Saharan African 120 GF 0.217 0.783 0.108 0.892
Concordant Genotype Total Sample A/G G/G
ss23970707 68 4 62
ss86346501 1110 76 932
RefSNP Genotype Summary Total Individual A/G G/G
rs2070607 1263 80 986
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
151 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA10847 CEPH1334.02 r27_ch7_CEU_illumina:human_1m_beadchip
170 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA07000 CEPH1340.10 r27_ch7_CEU_illumina:human_1m_beadchip
171 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA07022 CEPH1340.11 r27_ch7_CEU_illumina:human_1m_beadchip
172 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA07056 CEPH1340.12 r27_ch7_CEU_illumina:human_1m_beadchip
174 ss86346501 N/N CSHL-HAPMAP HapMap-CEU NA07048 CEPH1341.01 r27_ch7_CEU_illumina:human_1m_beadchip
184 ss86346501 N/N CSHL-HAPMAP HapMap-CEU NA07034 CEPH1341.11 r27_ch7_CEU_illumina:human_1m_beadchip
185 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA07055 CEPH1341.12 r27_ch7_CEU_illumina:human_1m_beadchip
186 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA06993 CEPH1341.13 r27_ch7_CEU_illumina:human_1m_beadchip
199 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12056 CEPH1344.12 r27_ch7_CEU_illumina:human_1m_beadchip
213 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA07357 CEPH1345.12 r27_ch7_CEU_illumina:human_1m_beadchip
225 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12043 CEPH1346.11 r27_ch7_CEU_illumina:human_1m_beadchip
226 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12044 CEPH1346.12 r27_ch7_CEU_illumina:human_1m_beadchip
242 ss23970707 G/G PERLEGEN AFD_EUR_PANEL NA10854 71_IND_CHR_7 562450
242 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA10854 CEPH1349.02 r27_ch7_CEU_illumina:human_1m_beadchip
253 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA11840 CEPH1349.14 r27_ch7_CEU_illumina:human_1m_beadchip
262 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA11829 CEPH1350.10 r27_ch7_CEU_illumina:human_1m_beadchip
264 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA11831 CEPH1350.12 r27_ch7_CEU_illumina:human_1m_beadchip
335 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12707 CEPH1358.01 r27_ch7_CEU_illumina:human_1m_beadchip
345 ss86346501 N/N CSHL-HAPMAP HapMap-CEU NA12717 CEPH1358.12 r27_ch7_CEU_illumina:human_1m_beadchip
349 ss23970707 G/G PERLEGEN AFD_EUR_PANEL NA10861 71_IND_CHR_7 562450
349 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA10861 CEPH1362.02 r27_ch7_CEU_illumina:human_1m_beadchip
360 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA11992 CEPH1362.13 r27_ch7_CEU_illumina:human_1m_beadchip
363 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA11995 CEPH1362.16 r27_ch7_CEU_illumina:human_1m_beadchip
400 ss23970707 G/G PERLEGEN AFD_EUR_PANEL NA10831 71_IND_CHR_7 562450
400 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA10831 CEPH1408.02 r27_ch7_CEU_illumina:human_1m_beadchip
411 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12156 CEPH1408.13 r27_ch7_CEU_illumina:human_1m_beadchip
429 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA10835 CEPH1416.01 r27_ch7_CEU_illumina:human_1m_beadchip
464 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12003 CEPH1420.09 r27_ch7_CEU_illumina:human_1m_beadchip
535 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12750 CEPH1444.13 r27_ch7_CEU_illumina:human_1m_beadchip
545 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12760 CEPH1447.09 r27_ch7_CEU_illumina:human_1m_beadchip
546 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12761 CEPH1447.10 r27_ch7_CEU_illumina:human_1m_beadchip
548 ss86346501 A/G CSHL-HAPMAP HapMap-CEU NA12763 CEPH1447.12 r27_ch7_CEU_illumina:human_1m_beadchip
576 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12812 CEPH1454.12 r27_ch7_CEU_illumina:human_1m_beadchip
578 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12814 CEPH1454.14 r27_ch7_CEU_illumina:human_1m_beadchip
610 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12864 CEPH1459.01 r27_ch7_CEU_illumina:human_1m_beadchip
611 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12865 CEPH1459.02 r27_ch7_CEU_illumina:human_1m_beadchip
619 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12873 CEPH1459.10 r27_ch7_CEU_illumina:human_1m_beadchip
621 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12875 CEPH1459.12 r27_ch7_CEU_illumina:human_1m_beadchip
636 ss86346501 G/G CSHL-HAPMAP HapMap-CEU NA12891 CEPH1463.15 r27_ch7_CEU_illumina:human_1m_beadchip
5134 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19127 YOR077.02 r27_ch7_YRI_illumina:golden_gate_1.0.0
5135 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19128 YOR077.03 r27_ch7_YRI_illumina:golden_gate_1.0.0
5137 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19131 YOR101.02 r27_ch7_YRI_illumina:golden_gate_1.0.0
5149 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18524 CH18524 r27_ch7_CHB_illumina:human_1m_beadchip
5157 ss86346501 N/N CSHL-HAPMAP HapMap-HCB NA18540 CH18540 r27_ch7_CHB_illumina:human_1m_beadchip
5158 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18605 CH18605 r27_ch7_CHB_illumina:human_1m_beadchip
5161 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18572 CH18572 r27_ch7_CHB_illumina:human_1m_beadchip
5162 ss86346501 N/N CSHL-HAPMAP HapMap-HCB NA18547 CH18547 r27_ch7_CHB_illumina:human_1m_beadchip
5163 ss86346501 A/G CSHL-HAPMAP HapMap-HCB NA18609 CH18609 r27_ch7_CHB_illumina:human_1m_beadchip
5164 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18550 CH18550 r27_ch7_CHB_illumina:human_1m_beadchip
5167 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18611 CH18611 r27_ch7_CHB_illumina:human_1m_beadchip
5168 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18555 CH18555 r27_ch7_CHB_illumina:human_1m_beadchip
5169 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18564 CH18564 r27_ch7_CHB_illumina:human_1m_beadchip
5171 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18563 CH18563 r27_ch7_CHB_illumina:human_1m_beadchip
5172 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18570 CH18570 r27_ch7_CHB_illumina:human_1m_beadchip
5173 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18612 CH18612 r27_ch7_CHB_illumina:human_1m_beadchip
5175 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18620 CH18620 r27_ch7_CHB_illumina:human_1m_beadchip
5177 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18594 CH18594 r27_ch7_CHB_illumina:human_1m_beadchip
5181 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18576 CH18576 r27_ch7_CHB_illumina:human_1m_beadchip
5183 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18624 CH18624 r27_ch7_CHB_illumina:human_1m_beadchip
5189 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18592 CH18592 r27_ch7_CHB_illumina:human_1m_beadchip
5190 ss86346501 G/G CSHL-HAPMAP HapMap-HCB NA18636 CH18636 r27_ch7_CHB_illumina:human_1m_beadchip
5194 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18940 JA18940 r27_ch7_JPT_illumina:human_1m_beadchip
5195 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18951 JA18951 r27_ch7_JPT_illumina:human_1m_beadchip
5202 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18952 JA18952 r27_ch7_JPT_illumina:human_1m_beadchip
5203 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18956 JA18956 r27_ch7_JPT_illumina:human_1m_beadchip
5207 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18959 JA18959 r27_ch7_JPT_illumina:human_1m_beadchip
5208 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18969 JA18969 r27_ch7_JPT_illumina:human_1m_beadchip
5209 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18960 JA18960 r27_ch7_JPT_illumina:human_1m_beadchip
5211 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18972 JA18972 r27_ch7_JPT_illumina:human_1m_beadchip
5212 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18965 JA18965 r27_ch7_JPT_illumina:human_1m_beadchip
5213 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18973 JA18973 r27_ch7_JPT_illumina:human_1m_beadchip
5215 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18975 JA18975 r27_ch7_JPT_illumina:human_1m_beadchip
5219 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18970 JA18970 r27_ch7_JPT_illumina:human_1m_beadchip
5220 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18980 JA18980 r27_ch7_JPT_illumina:human_1m_beadchip
5223 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18971 JA18971 r27_ch7_JPT_illumina:human_1m_beadchip
5224 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18974 JA18974 r27_ch7_JPT_illumina:human_1m_beadchip
5225 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18987 JA18987 r27_ch7_JPT_illumina:human_1m_beadchip
5226 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18990 JA18990 r27_ch7_JPT_illumina:human_1m_beadchip
5227 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18991 JA18991 r27_ch7_JPT_illumina:human_1m_beadchip
5229 ss86346501 N/N CSHL-HAPMAP HapMap-JPT NA18992 JA18992 r27_ch7_JPT_illumina:human_1m_beadchip
5233 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA19005 JA19005 r27_ch7_JPT_illumina:human_1m_beadchip
5234 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA18999 JA18999 r27_ch7_JPT_illumina:human_1m_beadchip
5235 ss86346501 G/G CSHL-HAPMAP HapMap-JPT NA19007 JA19007 r27_ch7_JPT_illumina:human_1m_beadchip
5241 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA18506 YOR009.01 r27_ch7_YRI_illumina:golden_gate_1.0.0
5249 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA18516 YOR013.03 r27_ch7_YRI_illumina:golden_gate_1.0.0
5256 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA18854 YOR018.01 r27_ch7_YRI_illumina:golden_gate_1.0.0
5263 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA18861 YOR024.02 r27_ch7_YRI_illumina:golden_gate_1.0.0
5264 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA18862 YOR024.03 r27_ch7_YRI_illumina:golden_gate_1.0.0
5267 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA18913 YOR028.03 r27_ch7_YRI_illumina:golden_gate_1.0.0
5270 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19092 YOR040.03 r27_ch7_YRI_illumina:golden_gate_1.0.0
5271 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19103 YOR042.01 r27_ch7_YRI_illumina:golden_gate_1.0.0
5273 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19101 YOR042.03 r27_ch7_YRI_illumina:golden_gate_1.0.0
5274 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19139 YOR043.01 r27_ch7_YRI_illumina:golden_gate_1.0.0
5280 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19173 YOR047.01 r27_ch7_YRI_illumina:golden_gate_1.0.0
5286 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19211 YOR050.01 r27_ch7_YRI_illumina:golden_gate_1.0.0
5294 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19160 YOR056.03 r27_ch7_YRI_illumina:golden_gate_1.0.0
5299 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19116 YOR060.02 r27_ch7_YRI_illumina:golden_gate_1.0.0
5300 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19119 YOR060.03 r27_ch7_YRI_illumina:golden_gate_1.0.0
5304 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19154 YOR072.01 r27_ch7_YRI_illumina:golden_gate_1.0.0
5307 ss86346501 G/G CSHL-HAPMAP HapMap-YRI NA19145 YOR074.01 r27_ch7_YRI_illumina:golden_gate_1.0.0
Genotype data submitted for1278 samples from1263 individualsIndividual with multiple genotypes submission:15

  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 .