Reference SNP(refSNP) Cluster Report: rs1056992

Reference SNP(refSNP) Cluster Report: rs1056992

refSNP ID: rs1056992
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:	Not available
Clinical Association:	unknown

HGVS Names
NM_153449.2:c.88-10992C>T
NT_009714.16:g.755376G>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss5347745 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1056992 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
ss1537269	LEE\|699591	fwd/T	A/G	tcatcaactcgacatgaggggataacctct	gatccactcatcagatgctcatcagacgtt	09/13/00	10/10/03	86	cDNA	unknown
ss4425256	LEE\|e699591	fwd/T	A/G	tcatcaactcgacatgaggggataacctct	gatccactcatcagatgctcatcagacgtt	04/26/02	10/10/03	106	cDNA	unknown
ss5347745	TSC-CSHL\|TSC1551171	fwd/T	A/G	tcatcaactcgacatgaggggataacctct	gatccactcatcagatgctcatcagacgtt	09/20/02	04/07/04	108	Genomic	unknown
ss15924742	SC_SNP\|NT_009714.16_884062	fwd/T	A/G	tcatcaactcgacatgaggggataacctct	gatccactcatcagatgctcatcagacgtt	11/17/03	11/22/03	123	Genomic	unknown
ss18956496	SC_SNP\|SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_884062	fwd/T	A/G	tcatcaactcgacatgaggggataacctct	gatccactcatcagatgctcatcagacgtt	02/20/04	03/04/04	123	Genomic	unknown
ss20874393	SSAHASNP\|WGSA-200403-chr12.chr12.NT_009714.16_884062	fwd/T	A/G	tcatcaactcgacatgaggggataacctct	gatccactcatcagatgctcatcagacgtt	03/19/04	03/19/04	123	Genomic	unknown
ss24818911	SEQUENOM\|sqnm220214	fwd/T	A/G	tcatcaactcgacatgaggggataacctct	gatccactcatcagatgctcatcagacgtt	06/18/04	08/05/04	123	cDNA	unknown
ss40146117	ABI\|hCV29680815	fwd/T	A/G	tcatcaactcgacatgaggggataacctct	gatccactcatcagatgctcatcagacgtt	07/16/05	07/16/05	126	Genomic	unknown
ss88944872	BCMHGSC_JDW\|JWB-0514047	fwd/T	A/G	tcatcaactcgacatgaggggataacctct	gatccactcatcagatgctcatcagacgtt	02/26/08	02/28/08	129	Genomic	unknown

Fasta sequence (Legend)

 GGCTCCTCGG GCAGGGGACA GGATGTGAGC CCCTGGAATA GACTCATAAA AGAAAATGTT
 AGCACATACC ATTGAATTCA CTGAGACACA TGAGAAAATA TGGGAAAGTC GGAGAGTGGA
 AGAAAATGTA AAGACCCCCC TCCTCCCCAA AGAGTACGTT GTGTAGTGGG GTAGAGTGGA
 AAATCAATCC AAGAAAAGTA GCAAACGGAC CCAAAGATGA AGAGGAAGAA AAGAAACAGC
 AACACGAAAC GAAAAAAAAA GCCACCAGAT TTGTTGCAAC GTTGATGTAA ACCTGGCCGT
 CTTCCTGAAC CAGTGACCCA GGGTTTCCGC TTCCCTTTGC TGTCATCTTG CTCAAGTCTA
 GAAGCTGAAA TATCATCATC AACTCGACAT GAGGGGATAA CCTCT
 R
 GATCCACTCA TCAGATGCTC ATCAGACGTT CCAATTACAA AACTGAACCT CTTCTTAGTG
 CTGGGGCGGT TAGAATGCAA ACATTTCAAG AAAAAAACAC ATTGTTTTCT AGTGGTGATA
 GAATTGAGGG TGAGTTCTTC CTTCCTTTAT TGTTGTCTTT TCTTTTATTT TTTTCTACTT
 TACTGAAGGG CACATGCAAT AAAGCAGATA aaaatgcact aatctggagt ttacagttgg
 gtgaatattt atatctgtat tcacaggcat aaccattaac cagatcaaga tctagattct
 ttaacatttc ttgctcctca aaaagtttcc tagtgctggt tccagtctat agcctccttc
 tccagaagaa attgctattt ttacttccgc catcatcaat gaattttgtt gttcttgacc
 tttaaatgga accatacagt atgtactctt ttgtgctcag atgttttttc actgagcatc
 gtgtctacga gTACTATGT

GeneView

GeneView via analysis of contig annotation: SLC2A14 solute carrier family 2 (facilitated glucose transporter), member 14

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_009714->NM_153449

function

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


reference	NT_009714->NM_153449->NP_703150	755376	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1056992 maps exactly once on NCBI human chromosome 12

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
12	NW_001838051.1	758956	7809847	plus	A	alt_assembly_8	HuRef	HuRef	view	405
12	NT_009714.16	755376	7887669	plus	G	ref_assembly	reference	reference	view	405
12	NW_925295.1	7778069	9574487	plus	A	alt_assembly_1	Celera	Celera	view	405

NCBI Resource Links

Submitter-Referenced
dbSTS	GenBank
sqnm220214	NT_009714 Hs.223880

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss24818911	CEPH		184	AF				0.220	0.780

ss5347745	HapMap-CEU	European	116	IG	0.103	0.897	0.752	0.052	0.948

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.098+/-0.199	90	60	0	0

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

Validated by: ILLUMINA

UNKNOWN

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .