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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6510777          
refSNP ID: rs6510777
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_012435.1:c.-3-8727G>C
NT_011255.14:g.389659C>G
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 ss10941791 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6510777 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
ss10941791BCM_SSAHASNP|chr19.NT_011255.13_389659fwd/BC/Gcagtaataataataatttatacagtgggagctaaggtaggagaatcgcttgaacccggga06/30/0310/10/03116Genomicunknown
ss11193923WI_SSAHASNP|chr19.NT_011255.13_389659fwd/BC/Gcagtaataataataatttatacagtgggagctaaggtaggagaatcgcttgaacccggga07/03/0310/10/03116Genomicunknown
ss16808686CSHL-HAPMAP|CSHL-HuAA-200402.chr19.NT_011255.14_389659fwd/BC/Gcagtaataataataatttatacagtgggagctaaggtaggagaatcgcttgaacccggga02/17/0403/04/04120Genomicunknown
ss40961128ABI|hCV2658639rev/C/Gtcccgggttcaagcgattctcctaccttagctcccactgtataaattattattattactg07/17/0507/17/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6510777|allelePos=1511|totalLen=1907|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=126
 AGATCTTCCT CATTATAAGG GAAATAAACA GAGCTTTACG GGGGAGAAAA GTCACCTTCA
 CCAAGTACat tcatttccca gggctgccgt gagcaaaggc cacacctggg ggccacggga
 gcggatcctc tccacgtccc agagccggga gtctgaggtc aagctgcggg cagggcctcg
 ctccctctga agccccgggg gagggtcctt cctgcctctt ccagcttctg ggggctcccg
 gcgtcccggg cttgtggccg tgttactcca tctctgcctc ctccacacag ctgtctcctt
 ctgtgcagat ttccctcttc ttagaggaca cgagccattg catttaggcc ccaccctatt
 tcagtaactc cagtgtggcc tcatcttaac taaccacgtc tgcaaaggac cttttccaaa
 taaggACGTG AGTTTTGGGG AACACCGTTC GCCCCAGGAC actaggtgat caaagtctcc
 agcaccagta tcaggacaaa ccagcacccg ggggcctcct gacacgaagg gctgggaaaa
 cacagcaccc ctctgtgcgt cctgccaaaa acacaacctc gactcaactg caggcaaaca
 ccaggcagac acaaactgag ggacggcagc ccagcagccg gtgtgcactc ttcaacacta
 ctggctccat ggatcccagg acggaacaac tgtgaggcta aaggtggtaa aagagacagg
 acGGACGGGG CAAgtggctc acgcctctaa tcccagcact gtgggaggcc gaggcagaca
 gacggcttga gttcaggagt tcaagaccag cctgggcaac atggtgaaac cccgtctcta
 caaaaaaaaa aaaatacaaa aatacaaaaa gtagccaggc atggtggtgc acacctgtag
 tcccagctac tcgggaggct gaggcaggag aatcgcttga acgcaggagg tggaggttgc
 cgtgagccga gatggtgcca ctgcactcca gcctgggcga cagagccaga ctctgtctct
 aaaaaattaa aataaataaa ataaaaatta gctgggcgtg gtggcacaca gctgtggtcc
 cagcagcctg ggaggtctca gcaagaggct gaggtgcaag gatcgcttga acccaggagg
 cggaggttgc agtgagctga gatggcacca ttgcactcca gcctggatga tccagagcga
 gatcctgtct caaaaaaaga aaaaaaaaGG CAGGATGGCT AAATGCAATG TGGGATGGGA
 AAATAAAGGT TGCTCTGAca cCGttgggaa aactggtcac atttgaatac gcactgaaaa
 tgtgatcgca ggattgtaac ggtacatttc ctgactttgt taatcatacc atagctatgc
 tggagaaaat ccttgtcctt agactatata ccctagcgtg tttgagggta gaggggtatc
 acggctgcag actttctcaa ttgttcaTCA ATAATAACGA CAGTAATAAT AATAATTTAT
 ACAGTgggag
 S
 ctaaggtagg agaatcgctt gaacccggga ggcggaggtt gcaatgagcc gagattgcgc
 cattgcactc cagcctgggc aacgagagca aaaccgtgtc tcaaTAATGA TAATAATAAT
 AATTTATACA gacagaataa atgaggcaag atgttaataa tcggccagtc taggtgaatg
 acacatggga actctttgta ctagtcttct ttggaacttt tcGTCTCAAT AGAATTCCAA
 ACTTACAAAA GCTCTACGTA GTCTACTGTT CTTGTTTCTT TGATCTAAGG TTGAAACTAT
 TTAAAGGCAA ATTTCTTTGA CACCCTGCGC CACGCTGACC AGTGCCGCCC TCCACCCCTG
 GCCAGGAGGA CGCCCCTCCC ACTGGCCACA GCCCCC

  GeneView back to top
GeneView via analysis of contig annotation: SHC2 SHC (Src homology 2 domain containing) transforming protein 2
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_011255->NM_012435
svfunction
CeleraNW_927140->NM_012435
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011255->NM_012435->NP_036567389659reverseintron
CeleraNW_927140->NM_012435->NP_036567367654forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6510777 maps exactly once on NCBI human chromosome 19
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
19NW_001838476.1207922218723plusCalt_assembly_8HuRefHuRefview1510
19NW_927140.1367654367654minusGalt_assembly_1CeleraCeleraview1510
19NT_011255.14389659400659plusCref_assemblyreferencereferenceview1510

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011255
dbSNP Blast Analysis
GenBank HTGS Finished:
AC006124.2 AC138433.2 NC_000019.8

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
HWPG
ss10941791HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 88IG 1.000 1.000
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
27021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .