Reference SNP(refSNP) Cluster Report: rs2298720

Reference SNP(refSNP) Cluster Report: rs2298720

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	100/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_001128588.1:c.298G>A
NM_015865.2:c.130G>A
NM_015865.3:c.130G>A
NP_001122060.1:p.Glu100Lys
NP_056949.1:p.Glu44Lys
NP_056949.2:p.Glu44Lys
NT_010966.13:g.24799517G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44094733 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2298720 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
ss3243731	YUSUKE\|IMS-JST053816	fwd/B	C/T	gataaatacctttaagctggttggcaagtt	tttcatgtcaccggtgacatagccaagagc	09/05/01	10/10/03	100	Genomic	unknown
ss6757711	WI_SSAHASNP\|NT_024981.11_5134160	rev/T	A/G	gctcttggctatgtcaccggtgacatgaaa	aacttgccaaccagcttaaaggtatttatc	02/12/03	10/25/06	111	Genomic	unknown
ss20049395	CSHL-HAPMAP\|CSHL-HuFF-200402.chr18.NT_010966.13_24799517	rev/T	A/G	gctcttggctatgtcaccggtgacatgaaa	aacttgccaaccagcttaaaggtatttatc	02/21/04	03/04/04	120	Genomic	unknown
ss24037089	PERLEGEN\|afd1813997	rev/T	A/G	gctcttggctatgtcaccggtgacatgaaa	aacttgccaaccagcttaaaggtatttatc	08/10/04	09/13/04	123	Genomic	unknown
ss28501779	IMCJ-GDT\|IMCJ-SLC14A1_8-AG	rev/T	A/G	gctcttggctatgtcaccggtgacatgaaa	aacttgccaaccagcttaaaggtatttatc	08/20/04	08/20/04	126	Genomic	unknown
ss37042674	PGA-UW-FHCRC\|SLC14A1-008230	rev/T	A/G	gctcttggctatgtcaccggtgacatgaaa	aacttgccaaccagcttaaaggtatttatc	04/07/05	11/02/06	125	Genomic	unknown
ss44094733	ABI\|hCV1727559	rev/T	A/G	gctcttggctatgtcaccggtgacatgaaa	aacttgccaaccagcttaaaggtatttatc	07/18/05	11/03/06	126	Genomic	unknown
ss48420419	APPLERA_GI\|hCV1727559	rev/T	A/G	gctcttggctatgtcaccggtgacatgaaa	aacttgccaaccagcttaaaggtatttatc	09/28/05	11/03/06	126	Genomic	unknown
ss65726741	ILLUMINA\|Human1-rs2298720	fwd/B	C/T	gataaatacctttaagctggttggcaagtt	tttcatgtcaccggtgacatagccaagagc	10/10/06	10/10/06	127	Genomic	unknown
ss66677411	ILLUMINA\|HumanHap300v1.1_rs2298720	fwd/B	C/T	gataaatacctttaagctggttggcaagtt	tttcatgtcaccggtgacatagccaagagc	11/09/06	11/09/06	127	Genomic	unknown
ss69213284	PERLEGEN\|PGP01813997	rev/T	A/G	gctcttggctatgtcaccggtgacatgaaa	aacttgccaaccagcttaaaggtatttatc	01/30/07	08/14/07	127	Genomic	unknown
ss74808382	AFFY\|SNP_M-180099	fwd/B	C/T	gataaatacctttaagctggttggcaagtt	tttcatgtcaccggtgacatagccaagagc	08/09/07	08/09/07	128	Genomic	unknown
ss74969867	ILLUMINA\|ILMN_Human_1M_rs2298720	fwd/B	C/T	gataaatacctttaagctggttggcaagtt	tttcatgtcaccggtgacatagccaagagc	08/28/07	08/29/07	129	Genomic	unknown
ss114348630	1000GENOMES\|NA19240_2008_12_16_3160467_chr18_41564413	rev/T	A/G	gctcttggctatgtcaccggtgacatgaaa	aacttgccaaccagcttaaaggtatttatc	12/18/08	12/18/08	130	Genomic	unknown

Fasta sequence (Legend)

 TACAAATTCT GAAGCCAAAG GAATAAATTT AAGTTTTAAG TACTGAAACT ACAGGATGAA
 GCCAGGTGCC TTCTAATATG AGCTGGGCCC TGGCTACTGT CTCCATAAGA AAAAAAAATG
 GAGAGGTTTG CAGGTTAAAA GATAAAAGTA GAAAAATGGT GAGTAAAGAG ATCTATAAAA
 AGTTGGAGAA TATAACTAAA GGTATAAGTA GAAGTACCAG GAAACCATTT CCCCCAAAGC
 TACTTCTCCT GTCTCTCCAA AATGTGAAAG GATAAATACC TTTAAGCTGG TTGGCAAGTT
 Y
 TTTCATGTCA CCGGTGACAT AGCCAAGAGC TTTGGGGAAG CACCTTCTCC CTTGACATGG
 CGAAACCTGG TTTTCACCCC TAACCATAGT GGGGCTGTCC ACTCTAACCA TAGTGGGGCT
 GTCCTCCATG GCTATCTCTT CCTCTGGCTC CTTGAGGGAA GGACAGAGCT TATAAGTATC
 CCTAAGGCAG AGCCCTCCAG ATTAGCCAGC TTTGGGCCTG GTTACAGTAG AAGATCTGGA
 CCACTATGTT CCATAGAACT AAGAGAGCAC CATTTTCCTT CTGAAACACC ACCACAGAGC

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_010966

dbSNP Blast Analysis

UniGene Cluster ID
101307

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	T/T	HWP	C	N	T
ss24037089	AFD_EUR_PANEL	European	48	IG	0.792	0.208		0.584	0.896		0.104

	AFD_AFR_PANEL	African American	44	IG	0.591	0.364	0.045	1.000	0.773		0.227

	AFD_CHN_PANEL	Asian	48	IG	0.417	0.542	0.042	0.251	0.688		0.312

ss37042674	PGA_CEPH-PANEL	European	46	IG	0.826	0.174		0.655	0.913		0.087

	PGA_YORUB-PANEL	Sub-Saharan African	46	IG	0.478	0.478	0.043	0.403	0.717		0.283

	CHMJ	Asian	74	IG					0.662	0.027	0.311

ss44094733	HapMap-CEU	European	120	IG	0.817	0.183		0.439	0.908		0.092

	HapMap-HCB	Asian	88	IG	0.295	0.455	0.250	0.479	0.523		0.477

	HapMap-JPT	Asian	88	IG	0.432	0.523	0.045	0.150	0.693		0.307

	HapMap-YRI	Sub-Saharan African	120	IG	0.500	0.450	0.050	0.343	0.725		0.275

	AoD_African_American		90	AF					0.860		0.140

	AoD_Caucasian		92	AF					0.860		0.140

	AoD_Chinese		90	AF					0.640		0.360

	AoD_Japanese		90	AF					0.590		0.410

ss48420419	AGI_ASP population	multiple	44	IG	0.864	0.136		0.752	0.932		0.068

ss69213284	HapMap-CEU	European	120	GF	0.817	0.183			0.908		0.092

	HapMap-HCB	Asian	90	GF	0.289	0.444	0.267		0.511		0.489

	HapMap-JPT	Asian	90	GF	0.422	0.533	0.044		0.689		0.311

	HapMap-YRI	Sub-Saharan African	120	GF	0.500	0.450	0.050		0.725		0.275