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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs37370          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:76/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C/G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_031900.1:c.305G>A
NM_031900.1:c.305G>C
NM_031900.1:c.305G>T
NP_114106.1:p.Ser102Asn
NP_114106.1:p.Ser102Ile
NP_114106.1:p.Ser102Thr
NT_006576.15:g.35012243C>A
NT_006576.15:g.35012243C>G
NT_006576.15:g.35012243C>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 ss48411728 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs37370 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
ss41618KWOK|OVLP-96804fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt04/28/0010/10/0376Genomic99 %
ss438421KWOK|OVLP-000621-346477rev/TA/Gacatggagtggctctttgatgctgaaggaacagatacctggatttcttttccgggattgt06/30/0010/10/0385Genomic99 %
ss626541SC_JCM|AC011145.3_107288byFreqrev/TA/Gacatggagtggctctttgatgctgaaggaacagatacctggatttcttttccgggattgt07/12/0005/16/0485Genomicunknown
ss919465KWOK|OVLP-000804-237188fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt09/01/0010/10/0386Genomic99 %
ss1697001KWOK|OVLP-000925-416781fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt10/05/0010/10/0387Genomic99 %
ss3217369YUSUKE|IMS-JST027453byFreqfwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt09/05/0110/10/03100Genomicunknown
ss11767636WI_SSAHASNP|chr5.NT_006576.13_17465679fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt07/04/0310/10/03116Genomicunknown
ss22339986SSAHASNP|WGSA-200403-chr5.chr5.NT_006576.14_17491592fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt03/21/0403/21/04123Genomicunknown
ss23986348PERLEGEN|afd3693700byFreqfwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt08/10/0409/13/04123Genomicunknown
ss24805566SEQUENOM|sqnm175899rev/TC/Tacatggagtggctctttgatgctgaaggaacagatacctggatttcttttccgggattgt06/18/0406/18/04123cDNAunknown
ss35287891SSAHASNP|TA-079.chr5_35075243fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt03/11/05125Genomicunknown
ss48411728APPLERA_GI|hCV1018750byFreqfwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt09/28/0511/03/06126Genomicunknown
ss65727579ILLUMINA|Human1-rs37370fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt10/10/0610/10/06127Genomicunknown
ss68932153PERLEGEN|PGP03693700byFreqfwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt01/30/0708/14/07127Genomicunknown
ss74901967ILLUMINA|ILMN_Human_1M_rs37370fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt08/28/0708/29/07129Genomicunknown
ss80286872HGSV|Cor18507_SNV_20070510.chr5_35075243fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt11/23/0711/25/07130Genomicunknown
ss83913397HGSV|Cor18956_SNV_20070510.chr5_35075243fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt11/30/0712/06/07130Genomicunknown
ss85818909HGSV|Cor18517_SNV_20070510.chr5_35075243fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt12/06/0712/10/07130Genomicunknown
ss93058488BCMHGSC_JDW|JWB-1962567fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt02/26/0803/03/08129Genomicunknown
ss98611264HUMANGENOME_JCVI|1103654073918fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt04/01/0804/01/08130Genomicunknown
ss1089539691000GENOMES|CEU.trio.12.15.2008_1243061_chr5_35075243fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt12/15/0812/16/08130Genomicunknown
ss1116849131000GENOMES|NA19240_2008_12_16_1113674_chr5_35075243fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt12/16/0812/17/08130Genomicunknown
ss116564789ILLUMINA-UK|NA18507_000053697_NCBI36.1_chr5_35075243fwd/BC/Tacaatcccggaaaagaaatccaggtatctgttccttcagcatcaaagagccactccatgt01/17/0901/17/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs37370|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=130
 CAGTCACATG GTACATGCCA CACTACATGT GCCATGAGAA TAACAAAATC TTGCATTGTC
 AAGAAAGGAA AAGTAAGGGT GTCAAGATTT TGTACTCAGG AAATAGCAGG GAGTATGTCA
 GCCACAATCT GTCATAGATA TTTTTAAACC AAGATAAGCA AATCAAGAGT TCAGAGTCAC
 TAACATAATT GTTTTCCATG CATTCTTTTG GAATAAAAAT CTCCAGATTT TAAGGATACT
 CACGGGTGGC AATGGCCAAC ACTGACAGTA ACAATCCCGG AAAAGAAATC CAGGTATCTG
 N
 TTCCTTCAGC ATCAAAGAGC CACTCCATGT GCCCCTGGTG GAGCAGCAGG GGTTTCTGGA
 AATATGCCGT CACCACAGGA GAAAGATGTT CCTTGTGGAT TTCCAGGACA CGGTTGTAGC
 CAAGGGACTG TAGATAAACA AGATTTAAAC CCACACACTT CTTACAAGAT CAATAGCAGT
 CAATCTATGA GTAACAGAGC CCAGGCTCTC TAGTGGACAG AGAAGAGGGC TGCTGGCCTG
 TAGAGGCTCA GAAGTGCGTG TACTTACCCA ATATCGTCCC TGCAAGAAAT TAAAGCCTTT

  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
dbSTS GenBank
sqnm175899 NT_006576 ABBA01039261 AC010368 AC011145.3 AC025447 AC025447.3
dbSNP Blast Analysis
UniGene Cluster ID
34494

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/C
 C/C
 C/T
 T/T
 HWP A
 C
 T
ss23986348 AFD_EUR_PANEL European 48 IG 0.167 0.833 0.752 0.083 0.917
AFD_AFR_PANEL African American 46 IG 0.043 0.957 1.000 0.022 0.978
AFD_CHN_PANEL Asian 48 IG 0.250 0.417 0.333 0.439 0.458 0.542
ss3217369 JBIC-allele 1296 AF 0.449 0.551
ss48411728 HapMap-CEU European 120 IG 0.017 0.200 0.783 1.000 0.117 0.883
HapMap-HCB Asian 90 IG 0.133 0.533 0.333 0.479 0.400 0.600
HapMap-JPT Asian 88 IG 0.341 0.318 0.341 0.020 0.500 0.500
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
AGI_ASP population multiple 78 IG 0.103 0.897 0.752 0.051 0.949
ss626541 CEPH 184 AF 0.120 0.880
EURAME 32 GF 0.188 0.812 0.752 0.094 0.906
AFRAME 32 GF 0.125 0.875 0.001 0.125 0.875
ss68932153 HapMap-CEU European 120 GF 0.017 0.200 0.783 0.117 0.883
HapMap-HCB Asian 90 GF 0.133 0.533 0.333 0.400 0.600
HapMap-JPT Asian 90 GF 0.333 0.311 0.356 0.489 0.511
HapMap-YRI Sub-Saharan African 120 GF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.380+/-0.221 1140 983 186 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .