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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6062704          
refSNP ID: rs6062704
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:114/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_006602.2:c.1381-3344C>T
NT_011333.5:g.213424G>A
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 ss8378410 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6062704 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
ss8378410SC_SNP|NT_011333.5_213424fwd/TA/Gcgacgcccagcttcttcccaaattttaaaagttttaggatgcaatttaaaatgaccccac04/17/0310/10/03114Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6062704|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=114
 CCAACCAAGC AAGCTGCCAT TTCCAACTAC TGTGTGCACT CAGAATCTAC ACCTGCATAT
 AAATATACTC ATTTTCTTCC CAAttttttt tttttttgga tatggagttt cactcttgtc
 gcccagactg gggtgcaatg gcacgatctc agctcactgc aacctttgcc tcctgggttc
 aactgattct cccacctcag cctcctgagt agctgggatt acaggcatgt accaccacgc
 ccggctaatt tttgtatttt tagtagagac gggggtcaca ccgtattggc caggctggtc
 tcgaactcct gacctcaggt aatctgccca cctcagcttc ccaaagtgct gggattacag
 gcgtgagcta cgacgcccag ctTCTTCCCA AATTTTAAAA
 R
 GTTTTAGGAT GCAATTTAAA ATGACCCCAC ATTTTGATAA TTTCCTATAT TCTGACACCT
 AAAGCCTACA TATAAAAAAC ACTTGCCTAT TTGGCAAGAT AGAATTCACC TTTCAGGACA
 ATTAAATGAA AGTCAGAGCC TGGGCCGGCT CCGGAGAAGT TAGACCCTCG GAGCTGGTCT
 CGGACTGCTG GGGCGTCACC CCTTCAGCAA CCCCCGCTGA CCATGGCAGT ATTTCATGAC
 GAGGTGGAAA TCGAGGACTT CCAATATGAC GAGGACTCGG AGACATATTT CTGTCCCTGC
 CCATGCGGAG ATAACTTCTC CATCACCAAG GAAGAGCTGG AGAATGGGGA AGGTGTGGCA
 ATGTGTCCAG GCTGCTCTCT CATTATAAAA GTGATTTATG

  GeneView back to top
GeneView via analysis of contig annotation: TCFL5 transcription factor-like 5 (basic helix-loop-helix)
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_011333->NM_006602
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011333->NM_006602->NP_006593213424reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6062704 maps exactly once on NCBI human chromosome 20
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
20NW_927339.13165593358152824plusGalt_assembly_1CeleraCeleraview400
20NW_001838671.121549258194838plusGalt_assembly_8HuRefHuRefview400
20NT_011333.521342460947238plusGref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011333
dbSNP Blast Analysis
GenBank HTGS Finished:
AL035669.43
UniGene Cluster ID
30696

  Population Diversity back to top
There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .