Reference SNP(refSNP) Cluster Report: rs2212740

Reference SNP(refSNP) Cluster Report: rs2212740

refSNP ID: rs2212740
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	96/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/C
Ancestral Allele:	A
Clinical Association:	unknown

HGVS Names
NM_005867.2:c.230+11379G>T
NT_011512.10:g.25142892C>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss16909863 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2212740 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Success Rate
ss3155036	TSC-CSHL\|TSC1272718	fwd/T	A/C	aaaaaaaaaaaaaaaaaaaaaaaaaaaaaa	aacttgtactatgacttcaacttccaagtg	06/08/01	10/10/03	96	Genomic	unknown
ss5144780	TSC-CSHL\|TSC1273603	fwd/T	A/C	aaaaaaaaaaaaaaaaaaaaaaaaaaaaaa	aacttgtactatgacttcaacttccaagtg	09/19/02	10/10/03	108	Genomic	unknown
ss5930765	SC_JCM\|NT_011512.6_25058426	fwd/T	A/C	aaaaaaaaaaaaaaaaaaaaaaaaaaaaaa	aacttgtactatgacttcaacttccaagtg	01/10/03	10/10/03	111	Genomic	unknown
ss16909863	CSHL-HAPMAP\|CSHL-HuAA-200402.chr21.NT_011512.9_25141418	fwd/T	A/C	aaaaaaaaaaaaaaaaaaaaaaaaaaaaaa	aacttgtactatgacttcaacttccaagtg	02/17/04	03/04/04	120	Genomic	unknown

Fasta sequence (Legend)

 aaggggtgca aggtttattt gtattgtcat gaaaatgttc taaaattgat tgttgtaatt
 gcagaactct gtgaatatac taaaagtcat tgaatcatat actttaaatg ggtggattgt
 gtcacatatg aattatttct caatagagct gtttaaaaaA AAAAAAACAA CTTGTTggcc
 gggcgcagtg gctcacacct gtaatcctag cactttggga ggccaaggcg ggcggatcac
 gaggtcagaa gatcgagacc atcttggcta acacggtgaa acaccatctc tactaaaaat
 acaaaaaaaa aaataaaaaa tagccaggcg ttgtggcagg cgcctgtagt cccagctact
 caggaggcta aggcaggaga atgacatgaa cccaggaggc ggagcttgca gtgagccaag
 attgcgccac tgcagtccag cctgggctac agagtgagac tccctctcaa aaaaaaaaaa
 aaaaaaaaaa aaaaaaaaAA
 M
 AACTTGTACT ATGACTTCAA CTTCCAAGTG GAATGTAGAT GTTGTGATTG CCCAATGTTC
 CCAACACAAT TACTGGACAA AAAGCCAGAC AAATGACCAA AATCTTGTTT CAAGTCGCCA
 TACAGTTGTA GAAACAATAA TTAGATGAAC TGGAATTTCA CAGGAGGAGA CTTCTAGAAC
 AGTAGGAATT TTGCTAATGT

GeneView

GeneView via analysis of contig annotation: DSCR4 Down syndrome critical region gene 4

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_011512->NM_005867

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	Function


reference	NT_011512->NM_005867->NP_005858	25142892	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs2212740 maps exactly once on NCBI human chromosome 21

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
21	NW_927384.1	24164714	24679591	plus	C	alt_assembly_1	Celera	Celera	view	500
21	NW_001838708.2	805250^805251	24951094^24951095	minus	-	alt_assembly_8	HuRef	HuRef	view	499..500
21	NT_011512.10	25142892	38402892	plus	C	ref_assembly	reference	reference	view	500

NCBI Resource Links

Submitter-Referenced
GenBank
NT_011512.6

dbSNP Blast Analysis
GenBank HTGS Finished:
AP000160.1

Population Diversity

There is no frequency data.

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

DoubleHit found by: BCM_SSAHASNP

UNKNOWN

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Revised: May 25, 2006 1:38 PM .