Reference SNP(refSNP) Cluster Report: rs4344

Reference SNP(refSNP) Cluster Report: rs4344

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	36/130
Map to Genome Build:	36.3
Citation:	PubMed

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

HGVS Names
NM_000789.2:c.2641+231G>A
NM_152830.1:c.919+231G>A
NT_010783.14:g.20218735G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss23142653 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4344 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
ss4733	DEBNICK\|dcp1-15214	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	05/03/99	12/23/03	36	Genomic	unknown
ss2990981	YUSUKE\|IMS-JST003571	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	05/24/01	10/25/06	96	Genomic	unknown
ss10849542	BCM_SSAHASNP\|chr17.NT_010783.13_16858656	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	06/30/03	10/10/03	116	Genomic	unknown
ss19364119	CSHL-HAPMAP\|CSHL-HuDD-200402.chr17.NT_010783.14_20218735	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	02/20/04	03/04/04	120	Genomic	unknown
ss22886491	IMCJ-GDT\|IMCJ-ACE_9-ag	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	03/22/04	10/26/06	121	Genomic	unknown
ss23142653	PARC\|ACE-014644	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	05/07/04	05/16/04	126	Genomic	unknown
ss24456379	PERLEGEN\|afd4374993	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	08/10/04	09/13/04	123	Genomic	unknown
ss69199754	PERLEGEN\|PGP04374993	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	01/30/07	08/14/07	127	Genomic	unknown
ss75053453	ILLUMINA\|ILMN_Human_1M_rs4344	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	08/28/07	08/29/07	129	Genomic	unknown
ss78047060	HGSV\|Cor12878_SNV_20070510.chr17_58920456	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	10/17/07	10/17/07	129	Genomic	unknown
ss80728657	KRIBB_YJKIM\|KHS1000039	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	11/26/07	11/26/07	130	Genomic	unknown
ss84149495	PHARMGKB_PARC\|PS206642_PA151796460_14644	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	12/06/07	12/10/07	130	Genomic	unknown
ss84149504	PHARMGKB_PARC\|PS206642_PA151796638_14644	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	12/06/07	12/10/07	130	Genomic	unknown
ss86212091	RSG_UW\|ACE-014231	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	12/12/07	08/11/08	129	Genomic	unknown
ss90634044	BCMHGSC_JDW\|JWB-1038661	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	02/26/08	02/29/08	129	Genomic	unknown
ss95213755	CNG\|17578612	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	03/13/08	03/13/08	129	Genomic	unknown
ss109855943	1000GENOMES\|CEU.trio.12.15.2008_3421271_chr17_58920456	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	12/15/08	12/16/08	130	Genomic	unknown
ss113710662	1000GENOMES\|NA19240_2008_12_16_3080155_chr17_58920456	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	12/18/08	12/18/08	130	Genomic	unknown
ss118097385	ILLUMINA-UK\|NA18507_000064311_NCBI36.1_chr17_58920456	fwd/T	A/G	cagatctatgtcgggcaagtcaccatggat	ggggaagaagttaataatcttgtccaggag	01/20/09	01/20/09	130	Genomic	99 %

Fasta sequence (Legend)

 GGGCCCATTC CTGCTCACCT GCTGGGTAAG GGCACATGTC GGGCCTTGAG GAGGGTAAAG
 ACGGACCACA GTGTGAGTGA GGGTTGGGAC AGGGCTGACT AGAGGGTAGG GAGCAGGCTG
 GGGACTGAGA GACTCCAGCC CTGTGGGGGA TGGTTGCCCA GGCTGGAGGG GGGTGGGCGC
 TGGGAGTGGG GAGCCCCCCA CTTGCATCTG GTGCCACATT CACTGCAGAT CTATGTCGGG
 CAAGTCACCA TGGAT
 R
 GGGGAAGAAG TTAATAATCT TGTCCAGGAG ACCACGGCAC CCATCACAAC ATTGTGTGAT
 CTTAGAGGGC GAGGAAGAGG CTGTGAGTGG GAGCTGGGGA GGCTTTGCCA AGAGGTGGCC
 TGTGAGCAGG GCCTCGGAAG ATGACAGGGT TTGACAGATG GGAAGTGGGG GATGAGAGGA
 CAGACGCAGT GTTCAGGCCA AGGGAACTGG AACAAAGAAG AACCTGAGAA TGTAAATCTA
 CTTCAACCCT GGACC

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_010783.14

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss22886491	IMCJ-JP2		46	AF					0.674	0.326

	IMCJ-AA1		200	AF					0.405	0.595

	IMCJ-CA1		194	AF					0.490	0.510

	IMCJ-JP1		130	AF					0.669	0.331

ss23142653	PARC-EUROPEAN-PANEL	European	40	AF					0.325	0.675

	HapMap-CEU	European	116	IG	0.293	0.431	0.276		0.509	0.491

	HapMap-HCB	Asian	88	IG	0.568	0.409	0.023		0.773	0.227

	HapMap-JPT	Asian	86	IG	0.279	0.558	0.163		0.558	0.442

	HapMap-YRI	Sub-Saharan African	116	IG	0.207	0.466	0.328		0.440	0.560

ss24456379	AFD_EUR_PANEL	European	40	IG	0.200	0.500	0.300	1.000	0.450	0.550

	AFD_AFR_PANEL	African American	44	IG	0.136	0.455	0.409	1.000	0.364	0.636

	AFD_CHN_PANEL	Asian	34	IG	0.471	0.529		0.150	0.735	0.265

ss2990981	JBIC-allele		1466	AF					0.650	0.350

ss69199754	HapMap-CEU	European	120	GF	0.317	0.417	0.267		0.525	0.475

	HapMap-HCB	Asian	90	GF	0.556	0.422	0.022		0.767	0.233

	HapMap-JPT	Asian	90	GF	0.289	0.556	0.156		0.567	0.433

	HapMap-YRI	Sub-Saharan African	120	GF	0.200	0.483	0.317		0.442	0.558

ss80728657	KHP1		180	AF					0.611	0.389

ss84149495	PA151796461		80	AF					0.338	0.663

ss84149504	PA151796639		80	AF					0.338	0.663

ss86212091	NEWTON_CHEH_CLINICAL_PANEL		548	AF					0.445	0.555