Reference SNP(refSNP) Cluster Report: rs4331

Reference SNP(refSNP) Cluster Report: rs4331

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:	G
Clinical Association:	unknown

HGVS Names
NM_000789.2:c.2191G>A
NM_000789.2:c.2193A>G
NM_152830.1:c.471A>G
NP_000780.1:p.Ala731Thr
NT_010783.14:g.20216063A>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48402203 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4331 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	Ancestral Allele	Success Rate
ss4720	DEBNICK\|dcp1-12257	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	05/03/99	12/23/03	36	Genomic		unknown
ss6409	ARAVINDA\|CHAK00018	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggagtacaac	06/29/99	04/07/04	126	Genomic		unknown
ss2990975	YUSUKE\|IMS-JST003565	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	05/24/01	10/10/03	96	Genomic		unknown
ss3176895	WICVAR\|WIAF-14305	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggagtacaac	06/28/01	04/07/04	126	cDNA	G	unknown
ss4915973	WIPGA\|WI-27759	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	07/12/02	10/10/03	108	cDNA		unknown
ss10855019	BCM_SSAHASNP\|chr17.NT_010783.13_16855984	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	06/30/03	10/10/03	116	Genomic		unknown
ss22886487	IMCJ-GDT\|IMCJ-ACE_5-ag	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	03/22/04	10/26/06	121	Genomic		unknown
ss23142642	PARC\|ACE-011973	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	05/07/04	05/16/04	126	Genomic		unknown
ss24811630	SEQUENOM\|sqnm199124	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggagtacaac	06/18/04	08/05/04	126	cDNA		unknown
ss28507906	MGC_GENOME_DIFF\|BC036375x37544107-A20216063G	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	08/25/04	08/25/04	126	cDNA		unknown
ss48402203	APPLERA_GI\|hCV11942537	rev/B	C/T	acacacctcctccagctcctgggcaggcag	gctgcccgttctaggtcctgaaccttcttt	09/28/05	11/03/06	126	Genomic		unknown
ss75119754	ILLUMINA\|ILMN_Human_1M_rs4331	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	08/28/07	08/29/07	129	Genomic		unknown
ss76866563	CGM_KYOTO\|7873	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	09/12/07	09/12/07	129	cDNA		unknown
ss81247120	HGSV\|Cor18507_SNV_20070510.chr17_58917784	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	11/26/07	11/28/07	130	Genomic		unknown
ss84149362	PHARMGKB_PARC\|PS206642_PA151795316_11973	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	12/06/07	12/10/07	130	Genomic		unknown
ss86212080	RSG_UW\|ACE-011559	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	12/12/07	08/11/08	129	Genomic		unknown
ss90634017	BCMHGSC_JDW\|JWB-1038650	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	02/26/08	02/29/08	129	Genomic		unknown
ss95211476	CNG\|17444961	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	03/13/08	03/13/08	129	Genomic		unknown
ss109855899	1000GENOMES\|CEU.trio.12.15.2008_3421260_chr17_58917784	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	12/15/08	12/16/08	130	Genomic		unknown
ss113710614	1000GENOMES\|NA19240_2008_12_16_3080149_chr17_58917784	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	12/18/08	12/18/08	130	Genomic		unknown
ss118097368	ILLUMINA-UK\|NA18507_000064302_NCBI36.1_chr17_58917784	fwd/T	A/G	aaagaaggttcaggacctagaacgggcagc	ctgcctgcccaggagctggaggaggtgtgt	01/20/09	01/20/09	130	Genomic		99 %

Fasta sequence (Legend)

 CGTTATCAGC GTCCAGCTTG CAGAGAGTCT TATAGGCAAA GGTTGCAACT TAATTCCACT
 GCCCCCTCAC CACCACCTCC AGCCCTCAGC TCCCACTTGG GGCCTCCCGC TCAGAGGCTG
 CTCTGGAGCT CCTGGGCCCT GTGACACCAT CCCCCTGTGC CCTCAGCTGC AGAAGAACAT
 GCAAATAGCC AACCACACCC TGAAGTACGG CACCCAGGCC AGGAAGTTTG ATGTGAACCA
 GTTGCAGAAC ACCACTATCA AGCGGATCAT AAAGAAGGTT CAGGACCTAG AACGGGCAGC
 R
 CTGCCTGCCC AGGAGCTGGA GGAGGTGTGT GGCTCGCAAG GTACAGGGAG AGGGGAATCC
 TGGGGCAGTG AGCCCAACAC AGGGTCTGGC CTGGCCTTCA CGCTGCTTCC TCTTCCTCGT
 TGTATCAAGT CATGGCATCT GCCATGCGAT GTGCACCTCA GAACTGCTGA GAGGGCAGCG
 CTCCCCAGCT CCCTGGCTCC CCACCTGCCA GCCCATGGGG CCTGGGGGTA GTGCAGGCCC
 CAGAGAGACC AAGTGCAAAG GAGTACAGCT CATTGCCTCT CCTTCCTCCT GCAGTACAAC

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
dbSTS	GenBank
sqnm199124	NT_010783.14 BC036375

dbSNP Blast Analysis

UniGene Cluster ID
298469

3D structure mapping
NP_000780 NP_690043

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss22886487	IMCJ-JP2		92	AF					0.304	0.696

	IMCJ-AA1		198	AF					0.591	0.409

	IMCJ-CA1		170	AF					0.518	0.482

	IMCJ-JP1		126	AF					0.317	0.683

ss23142642	PARC-EUROPEAN-PANEL	European	38	AF					0.737	0.263

ss24811630	CEPH		184	AF					0.490	0.510

ss3176895	MITOGPOP6	multiple	66	IG	0.194	0.258	0.548	0.020	0.303	0.697

ss48402203	AGI_ASP population	multiple	32	IG	0.500	0.375	0.125	0.655	0.688	0.312

ss6409	HYP2		68	AF					0.200	0.800

ss84149362	PA151795317		84	AF					0.667	0.333

ss86212080	NEWTON_CHEH_CLINICAL_PANEL		544	AF					0.557	0.443

Concordant Genotype	Total Sample	A/A	A/G	G/G
ss3176895	30	6	8	16
ss48402203	1222

RefSNP Genotype Summary	Total Individual	A/A	A/G	G/G
rs4331	1249	6	8	16

Discordant Genotypes:
Indiviudal SampleID	SubSNP(ss)	Genotype	Population Handle	Submitter Population	Submitter SampleID	SampleID Alias	Submission Batch	NCBI ProbeID
1695	ss3176895	G/G	WICVAR	MITOGPOP6	CL77		06.26.01-n
1695	ss48402203	C/T	APPLERA_GI	AGI_ASP population	NA14661		1-1

Genotype data submitted for	1254	samples from	1249	individuals	Individual with multiple genotypes submission:	5

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

YES

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Revised: May 25, 2006 1:38 PM .