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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6030779          
refSNP ID: rs6030779
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:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_002895.2:c.2632-357A>G
NM_183404.1:c.2632-357A>G
NT_011362.9:g.700044T>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 ss8336326 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6030779 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
ss8336326SC_SNP|NT_011362.7_700044fwd/BC/Taatcccagcactttgggaggctgaggtgggggatcacttgaggccaggcgttcaagacca04/17/0310/10/03114Genomicunknown
ss83206794HGSV|Cor19240_SNV_20070510.chr20_35080543fwd/BC/Taatcccagcactttgggaggctgaggtgggggatcacttgaggccaggcgttcaagacca11/30/0712/04/07130Genomicunknown
ss91690826BCMHGSC_JDW|JWB-1438966fwd/BC/Taatcccagcactttgggaggctgaggtgggggatcacttgaggccaggcgttcaagacca02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6030779|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 ACAACTTCTC TTGGAATACT TTTCAGCAGA ACACTTCTAT ATACCTACAT GCCAGAGGGG
 AAGAAAAGGA CAGCTCAGTC ACAGAGGTAC AGGTTAAACA AAATCAAAGT GAGAAGAGCA
 AAATATCAAA CCAATTAAAA ACTATTTGTC TGTATAAGTG ATACTCAAGG GTAAAATGTT
 ATTAGCTCTA GTAAGTATAG ATTATAACAC ATACCATAAA AGAGGGGATA CTGGAGAAGA
 GCCTACCATC TAAGATGGGC TTAGTTTATA AAACAGAAGA AATAGCAACT AAAGACTGAT
 GATCAGGTTT TACTAAATGA AAGCAACTTT AAAGACCTGA ATTTggtcag gtgcagtggc
 tcacacctgt aatcccagca ctttgggagg ctgaggtggg
 Y
 ggatcacttg aggccaggcg ttcaagacca gctggccaac atggtgaaag cccatctcta
 ctaaaaatac aaaaattatc tgggtgtggt agcgcacagt tgtaattcca gctactaggg
 aggctgaggc agaactgctt gaactcagtg ggtggaggtt gcattgagct gagatcgcac
 cactgcactc cagcctggac aacagagcaa gactctgctc aaatacaaaa caaaataaaa
 caaacaaaCA AAAAACAAAA GACCTGAATT AATTCCTCCT TCTTCTTAAT TCCTTACACA
 ACAATCAATT GGtctttttt ttcttttttt ttttagagac agggtctcac tctatggctc
 agactggagt gcagtggcac aatcatggct cactgtagcc

  GeneView back to top
GeneView via analysis of contig annotation: RBL1 retinoblastoma-like 1 (p107)
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_011362->NM_002895
function
referenceNT_011362->NM_183404
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011362->NM_002895->NP_002886700044reverseintron
referenceNT_011362->NM_183404->NP_899662700044reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6030779 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_927339.1585783932354730plusTalt_assembly_1CeleraCeleraview400
20NW_001838665.170148432381573plusTalt_assembly_8HuRefHuRefview400
20NT_011362.970004435080543plusTref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011362
dbSNP Blast Analysis
GenBank HTGS Finished:
AL391114.12

  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
with2hit
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .