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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs733149          
refSNP ID: rs733149
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
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_007101.2:c.2069+1187A>G
NT_035014.4:g.3331255T>C
Links

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 ss78929 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs733149 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
ss78929TSC-CSHL|TSC0023057byFreqfwd/TA/Ggagaggatgggaaaggagaggaggagaggcgggaggggtgggggggagatgagtctccag09/06/0008/14/0786Genomic95 %
ss3530675SC_JCM|AC000388.1_43225fwd/TA/Ggagaggatgggaaaggagaggaggagaggcgggaggggtgggggggagatgagtctccag09/24/0110/10/03100Genomicunknown
ss5802092SC_JCM|NT_008554.12_99790rev/BC/Tctggagactcatctcccccccacccctcccgcctctcctcctctcctttcccatcctctc01/10/0310/10/03111Genomicunknown
ss12940757SC_SNP|NT_008554.15_100811rev/BC/Tctggagactcatctcccccccacccctcccgcctctcctcctctcctttcccatcctctc10/21/0310/31/03119Genomicunknown
ss43394496ABI|hCV2256330rev/BC/Tctggagactcatctcccccccacccctcccgcctctcctcctctcctttcccatcctctc07/18/0507/18/05126Genomicunknown
ss82807676HGSV|Cor18555_SNV_20070510.chr9_133583869rev/BC/Tctggagactcatctcccccccacccctcccgcctctcctcctctcctttcccatcctctc11/27/0712/03/07130Genomicunknown
ss83482316HGSV|Cor19240_SNV_20070510.chr9_133583869rev/BC/Tctggagactcatctcccccccacccctcccgcctctcctcctctcctttcccatcctctc11/30/0712/05/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs733149|allelePos=360|totalLen=635|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GGTCAGTGCC AGGGCTGATG GGGATGCGTC CCCCTTGTGC TCAGAAGCCT GCACACGCTC
 ACCGCCACCC TTTTTCAAGA GTTAAAAATC CTCTGTGAGA AAACGGCCTA GTCTAGGCCT
 TCCATTGGTG ACCCTCCCCC ACCAGGCTAA GGGGCCAGGA CACTCATCTC GGTGTGCTTC
 CTGCCGCCAC ATCTGCCTTG GGGCTGGACA GGGTGGCTCT GCTGGACTGG GCAGGAGGAA
 GAGGCACGAG ATGAGGGCAC TGCTTCTGGG GACATGGAGG ATATCAAAGG GGTGATCTGT
 CTCTGGAAAA TGATGGTGGC AGCTTCgggg agaggatggg aaaggagagg aggagaggc
 R
 gggaggggtg ggggggagaT GAGTCTCCAG CCTGAAGGTC GCCGAGGTGA GCACTTGACG
 TAGCAGGGCT GTGTCCTGGT GATATCCTGT CAGCCTGGGA TTCTGCCGAG ACCTCTGGCT
 GGAGTGCCCA GACCCTGCCA TGGGGTCTGC TTTCCCTGGC ACCCCACGCT GAGTCCTGGG
 CCAGTTGCTC CCCTCTCAGG CTGCAAGGGA CCGAGCTGTT GCTGTCCGTC CAAGCATATG
 CACTGTGGTG CTCAGGGGCA CACGGTAGAC GCGTG

  GeneView back to top
GeneView via analysis of contig annotation: SARDH sarcosine dehydrogenase
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label
Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_035014->NM_007101
function
HuRefNW_001839242->NM_007101
function
CeleraNW_924573->NM_007101
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_035014->NM_007101->NP_0090323331255reverseintron
HuRefNW_001839242->NM_007101->NP_009032100003reverseintron
CeleraNW_924573->NM_007101->NP_00903220588021reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs733149 maps exactly once on NCBI human chromosome 9
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
9NW_001839242.1100003106054116minusTalt_assembly_8HuRefHuRefview359
9NW_924573.120588021107100190minusTalt_assembly_1CeleraCeleraview359
9NT_035014.43331255135544136minusTref_assemblyreferencereferenceview359

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008554.12 AL365494
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL590710.14 AL954350.4

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss78929HapMap-HCBAsian 90IG 0.222 0.600 0.178 0.522 0.478
HapMap-JPTAsian 88IG 0.409 0.455 0.136 0.636 0.364
HapMap-YRISub-Saharan African 120IG 0.450 0.467 0.083 0.683 0.317

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.471+/-0.11718015000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .