Reference SNP(refSNP) Cluster Report: rs20571

Reference SNP(refSNP) Cluster Report: rs20571

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	67/130
Map to Genome Build:	36.3

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

HGVS Names
NM_005181.2:c.91G>A
NM_005181.3:c.91G>A
NP_005172.1:p.Val31Ile
NT_008183.18:g.38230048G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44921291 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs20571 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
ss23235	WIAF-CSNP\|WIAF-13535	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	12/21/99	04/07/04	67	cDNA	unknown
ss3254810	YUSUKE\|IMS-JST064895	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	09/05/01	10/10/03	100	Genomic	unknown
ss10425508	BCM_SSAHASNP\|chr8.NT_078037.1_377923	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	06/29/03	04/07/04	116	Genomic	unknown
ss16242822	CGAP-GAI\|1482922	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	11/18/03	11/22/03	120	cDNA	unknown
ss22729264	SSAHASNP\|WGSA-200403-chr8.chr8.NT_078037.2_345908	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	03/21/04	03/21/04	121	Genomic	unknown
ss24025169	PERLEGEN\|afd1947763	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	08/10/04	09/13/04	123	Genomic	unknown
ss28504179	MGC_GENOME_DIFF\|BC004897x37552703-G345908A	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	08/25/04	08/25/04	126	cDNA	unknown
ss44921291	ABI\|hCV11178610	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	07/19/05	11/03/06	126	Genomic	unknown
ss48407546	APPLERA_GI\|hCV11178610	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	09/28/05	11/03/06	126	Genomic	unknown
ss65722629	ILLUMINA\|Human1-rs20571	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	10/10/06	10/10/06	127	Genomic	unknown
ss66675448	ILLUMINA\|HumanHap300v1.1_rs20571	fwd/B	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	11/09/06	11/09/06	127	Genomic	unknown
ss67220306	ILLUMINA\|HumanHap550v1.1_rs20571	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	11/14/06	11/14/06	127	Genomic	unknown
ss67614515	ILLUMINA\|HumanHap650Yv1.0_rs20571	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	11/14/06	11/14/06	127	Genomic	unknown
ss69054390	PERLEGEN\|PGP01947763	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	01/30/07	08/14/07	127	Genomic	unknown
ss70698599	ILLUMINA\|HumanHap550v3.0__rs20571	rev/B	C/T	catgcctgatgtctttagtatgcagctcaa	gggcgactggttttcccccttggcatttgg	04/20/07	03/30/08	130	Genomic	unknown
ss71264413	ILLUMINA\|HumanHap650Yv3.0_rs20571	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	04/23/07	04/23/07	127	Genomic	unknown
ss75578352	ILLUMINA\|ILMN_Human_1M_rs20571	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	08/28/07	08/29/07	129	Genomic	unknown
ss79111066	ILLUMINA\|HumanHap300v2.0_rs20571	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	04/18/07	11/18/07	130	Genomic	unknown
ss83352226	KRIBB_YJKIM\|KHS441293	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	12/04/07	12/04/07	130	Genomic	unknown
ss93921753	BCMHGSC_JDW\|JWB-2490632	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	02/26/08	03/05/08	129	Genomic	unknown
ss97885746	HUMANGENOME_JCVI\|1103652371531	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	03/30/08	03/30/08	130	Genomic	unknown
ss108182514	1000GENOMES\|CEU.trio.12.15.2008_2027164_chr8_86539249	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	12/15/08	12/15/08	130	Genomic	unknown
ss116049375	ILLUMINA-UK\|NA18507_000123636_NCBI36.1_chr8_86539249	fwd/T	A/G	ccaaatgccaagggggaaaaccagtcgccc	ttgagctgcatactaaagacatcaggcatg	01/16/09	01/17/09	130	Genomic	99 %

Fasta sequence (Legend)

 TCTGAAAAAT AAGCCTTTGA GCAGGCAGAG TGAACACACT GAGTTAAATA GTCTCCATGT
 GTGCTATTCA CAAAACTACC AACAGGCCTG AAATGAATGC TAAGTCTCTT ATTGCCCAGT
 CTGAAACCTA AGACCTTTTT GAAATCACTG TCTAGCCTCT CTGTATTTTG CTGGTTTAGT
 CAATTAGAAA GAGGCCTTGG GTTGTGCCAC CAAATAAATA CATCTCCTCG ACTTTATTTC
 CTAGGTCCTG ACCACTGGCA TGAACTTTTC CCAAATGCCA AGGGGGAAAA CCAGTCGCCC
 R
 TTGAGCTGCA TACTAAAGAC ATCAGGCATG ACCCTTCTCT GCAGCCATGG TCTGTGTCTT
 ATGATGGTGG CTCTGCCAAG ACCATCCTGA ATAATGGGAA GACCTGCCGA GTTGTATTTG
 ATGATACTTA TGATAGGTCA AGTAAGTATG ACAATGAGGT AGAATCACAT GGATGTTTTC
 AAGGTCCATA TTGACAAAAT GTGGTTTATG ACACAGTACC AGAATTAATG GGGAGAGGGA
 GCACTTTATC TTTTAAAATG CAGATGACAT TTGACTTTGC TTTAGTCATG AATAATTATA

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_078037 ABBA01004009 BC004897 BM924263

dbSNP Blast Analysis

UniGene Cluster ID
82129

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G	N
ss10425508	CEPH		184	AF					0.510	0.490

	CHMJ	Asian	74	IG					0.378	0.608	0.014

ss23235	WIAF-CSNP-MITOGPOP4		40	AF					0.325	0.675

ss24025169	AFD_EUR_PANEL	European	48	IG	0.417	0.375	0.208	0.294	0.604	0.396

	AFD_AFR_PANEL	African American	46	IG	0.087	0.478	0.435	0.752	0.326	0.674

	AFD_CHN_PANEL	Asian	48	IG	0.125	0.583	0.292	0.343	0.417	0.583

ss44921291	HapMap-CEU	European	120	IG	0.450	0.317	0.233	0.010	0.608	0.392

	HapMap-HCB	Asian	90	IG	0.311	0.467	0.222	0.752	0.544	0.456

	HapMap-JPT	Asian	88	IG	0.250	0.364	0.386	0.100	0.432	0.568

	HapMap-YRI	Sub-Saharan African	120	IG	0.033	0.383	0.583	0.479	0.225	0.775

	AoD_African_American		90	AF					0.290	0.710

	AoD_Caucasian		92	AF					0.640	0.360

ss48407546	AGI_ASP population	multiple	64	IG	0.250	0.375	0.375	0.200	0.438	0.562

ss69054390	HapMap-CEU	European	120	GF	0.450	0.317	0.233		0.608	0.392

	HapMap-HCB	Asian	90	GF	0.311	0.467	0.222		0.544	0.456

	HapMap-JPT	Asian	90	GF	0.244	0.378	0.378		0.433	0.567

	HapMap-YRI	Sub-Saharan African	120	GF	0.033	0.383	0.583		0.225	0.775