Reference SNP(refSNP) Cluster Report: rs2886059

Reference SNP(refSNP) Cluster Report: rs2886059

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	101/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	G/T
Ancestral Allele:	G
Clinical Association:	unknown

HGVS Names
NM_012190.2:c.988G>T
NP_036322.2:p.Val330Phe
NT_005612.15:g.32360912C>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss4078009 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2886059 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
ss113603	TSC-CSHL\|TSC0081055	rev/T	A/C	gctgccaaa	actctgcaaagcaagacctgatgagaggct	09/06/00	10/10/03	108	Genomic	unknown
ss4078009	TSC-CSHL\|TSC1755072	fwd/B	G/T	agcctctcatcaggtcttgctttgcagagt	tttggcagcggatcctccccaaagtcctgg	10/02/01	10/25/06	101	Genomic	unknown
ss6312014	RIKENSNPRC\|ssj0004396	fwd/B	G/T	agcctctcatcaggtcttgctttgcagagt	tttggcagcggatcctccccaaagtcctgg	01/15/03	10/10/03	111	Genomic	unknown
ss10059832	BCM_SSAHASNP\|chr3.NT_005612.13_32265302	rev/T	A/C	ccaggactttggggaggatccgctgccaaa	actctgcaaagcaagacctgatgagaggct	06/27/03	10/10/03	116	Genomic	unknown
ss16956818	CSHL-HAPMAP\|CSHL-HuAA-200402.chr3.NT_005612.14_32360920	rev/T	A/C	ccaggactttggggaggatccgctgccaaa	actctgcaaagcaagacctgatgagaggct	02/17/04	03/04/04	120	Genomic	unknown
ss21997571	SSAHASNP\|WGSA-200403-chr3.chr3.NT_005612.14_32360920	rev/T	A/C	ccaggactttggggaggatccgctgccaaa	actctgcaaagcaagacctgatgagaggct	03/20/04	03/20/04	121	Genomic	unknown
ss23284987	PERLEGEN\|afd3095652	rev/T	A/C	ccaggactttggggaggatccgctgccaaa	actctgcaaagcaagacctgatgagaggct	08/10/04	09/13/04	123	Genomic	unknown
ss44377121	ABI\|hCV15838329	rev/T	A/C	ccaggactttggggaggatccgctgccaaa	actctgcaaagcaagacctgatgagaggct	07/18/05	07/18/05	126	Genomic	unknown
ss68874544	PERLEGEN\|PGP03095652	rev/T	A/C	ccaggactttggggaggatccgctgccaaa	actctgcaaagcaagacctgatgagaggct	01/30/07	08/14/07	127	Genomic	unknown
ss74807037	AFFY\|SNP_M-177439	fwd/B	G/T	agcctctcatcaggtcttgctttgcagagt	tttggcagcggatcctccccaaagtcctgg	08/09/07	08/09/07	128	Genomic	unknown
ss74884846	ILLUMINA\|ILMN_Human_1M_rs2886059	fwd/B	G/T	agcctctcatcaggtcttgctttgcagagt	tttggcagcggatcctccccaaagtcctgg	08/28/07	08/29/07	129	Genomic	unknown
ss76612806	AFFY\|AFFY_6_1M_SNP_A-8473924	rev/T	A/C	aggatccgctgccaaa	actctgcaaagcaaga	08/28/07	08/30/07	129	Genomic	unknown
ss86239045	CORNELL\|hCV15838329	rev/B	G/T	ccaggactttggggaggatccgctgccaaa	actctgcaaagcaagacctgatgagaggct	01/21/08	01/21/08	129	Genomic	unknown
ss92270036	BCMHGSC_JDW\|JWB-1660892	rev/T	A/C	ccaggactttggggaggatccgctgccaaa	actctgcaaagcaagacctgatgagaggct	02/26/08	03/02/08	129	Genomic	unknown
ss104882933	KRIBB_YJKIM\|KHS1275251	fwd/B	G/T	agcctctcatcaggtcttgctttgcagagt	tttggcagcggatcctccccaaagtcctgg	07/10/08	07/10/08	130	Genomic	unknown

Fasta sequence (Legend)

 GTCTCCTGAA CCCATCTGTG AGCCTCATAG TCACCTTCAG GCCCACCCTG TCTCCAGCCT
 GCTGCTACAA CACCCGGGCA TCGGTGTCAC ACTAGGGACA CCAGAACCTG GGCGCTAGCA
 CCAAGGTGAG TGGGGGTCAG GAGCAGCTGG GCCCCACCTT CCTAGTCCCC AGCCATGCCT
 AGAGGCCTGG CACATCTGTC CTCCATCAGC TGGACTGTCA TGGGGACCCC AGAGAAGCTG
 GGGGTTGAGG TGAGGTGGGC ATGAGGACAG CAGCCAGCAT CAGAGGGCCC TGGGATGTGG
 CAGCTCCTTC TTTCCCAGAA GGTGGTCACT CCAGGACCAT TAAGCCTCCT GGGATGAGGC
 AACAACTTGG AGGTACATAG AGAAGCCCAG CCTGGCCCCA GGCCATCCAT GAGTCTGTTC
 AGGGGTTGTT GTCCTGGAGT GGCACTTGTC CCCAGCTCCC CTGGGGCCAG CCTCTCATCA
 GGTCTTGCTT TGCAGAGT
 K
 TTTGGCAGCG GATCCTCCCC AAAGTCCTGG AGGTTGAAGA CTCCACTGAT TTCTTCAAGT
 CAGGGGCCGC GTCTGTGGAC GTTGTGAGGT AAGGCCAGGA GTGGAGGGGT CCTGTCCCAG
 GTACTTGGTG CTGTGTCACA AATCTCTGCA AAACTGAGCA GCAGGAAACA ACCATTTGTT
 ACACTCATGG ATCATGTGGG CCAGGGACCC AGGAAGGGCC AGTGTGCAGG TCTGCGTGCA
 CACATGGTGG GCAGCACAAA TGAATGGTTG CAGGTCTTTA TGCAAATGTT AAGGGGGCGT
 AGTTGCATGC AGCCTCTCTG GGGAAGTTCT AGGAGGGAAT TTGGGAGGAG TTGATTCAGA
 AGAACAGTAC TGAGTTCATA GGGAGAATTA GGGTTATGTA TTGTGCCAAC CATTTGTGCT
 GTGCAACAAA GCACCCCAAA ACATTGAGAT TTAAACCAAC ACCATATCCT TAGCTCACAG
 TACTATGGTT CGACAGTTTG

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function	Chr	mRNA				Protein
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A

Integrated Maps:

Genome Build	Chr	Chr Pos	Contig	Contig Pos	SNP to Chr	Contig allele	Group term	Group label	Contig label	Neighbor SNP	Map Method

doesn't map to any assembly.

NCBI Resource Links

Resource

Submitter-Referenced
GenBank
NT_005612

dbSNP Blast Analysis

UniGene Cluster ID
434435

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	G/G	G/T	T/T	HWP	G	N	T
ss23284987	AFD_EUR_PANEL	European	48	IG	0.625	0.292	0.083	0.403	0.771		0.229

	AFD_AFR_PANEL	African American	46	IG	0.435	0.435	0.130	1.000	0.652		0.348

	AFD_CHN_PANEL	Asian	48	IG	0.667	0.333		0.343	0.833		0.167

ss4078009	HapMap-CEU	European	120	IG	0.783	0.183	0.033	0.251	0.875		0.125

	HapMap-HCB	Asian	90	IG	0.644	0.289	0.067	0.403	0.789		0.211

	HapMap-JPT	Asian	88	IG	0.523	0.455	0.023	0.200	0.750		0.250

	HapMap-YRI	Sub-Saharan African	118	IG	0.288	0.441	0.271	0.317	0.508		0.492

	CHMJ	Asian	74	IG					0.770	0.014	0.216

ss68874544	HapMap-CEU	European	120	GF	0.783	0.183	0.033		0.875		0.125

	HapMap-HCB	Asian	90	GF	0.644	0.289	0.067		0.789		0.211

	HapMap-JPT	Asian	90	GF	0.533	0.444	0.022		0.756		0.244

	HapMap-YRI	Sub-Saharan African	120	GF	0.300	0.433	0.267		0.517		0.483