Reference SNP(refSNP) Cluster Report: rs3094124

Reference SNP(refSNP) Cluster Report: rs3094124

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	103/130
Map to Genome Build:	36.3

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

HGVS Names
NM_003897.3:c.379G>C
NP_003888.2:p.Ala127Pro
NT_007592.14:g.21570056C>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss12684301 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3094124 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
ss4329458	SC_JCM\|AB023051.1_61168	fwd/T	C/G	gccgcatccctggcgcccacccctgtgtcc	ccgtcctcgagccctttaatctgacttcgg	02/19/02	10/10/03	103	Genomic	unknown
ss12684301	SI_MHC_SNP\|AL662797.7_67113_CG	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	09/10/03	03/31/08	118	Genomic	unknown
ss16257202	CGAP-GAI\|1514459	fwd/T	C/G	gccgcatccctggcgcccacccctgtgtcc	ccgtcctcgagccctttaatctgacttcgg	11/18/03	11/22/03	120	cDNA	unknown
ss48430546	APPLERA_GI\|hCV25606135	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	10/02/05	11/03/06	126	Genomic	unknown
ss65727317	ILLUMINA\|Human1-rs3094124	fwd/T	C/G	gccgcatccctggcgcccacccctgtgtcc	ccgtcctcgagccctttaatctgacttcgg	10/10/06	10/10/06	127	Genomic	unknown
ss68970906	PERLEGEN\|PGP04056702	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	01/30/07	01/30/07	127	Genomic	unknown
ss81857181	HGSV\|Cor18555_SNV_20070510.chr6_30819784	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	11/27/07	12/01/07	130	Genomic	unknown
ss84620847	HGSV\|Cor19129_SNV_20070510.chr6_30819784	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	12/06/07	12/07/07	130	Genomic	unknown
ss93433535	BCMHGSC_JDW\|JWB-2117919	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	02/26/08	03/04/08	129	Genomic	unknown
ss98377169	HUMANGENOME_JCVI\|1103652822636	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	03/31/08	03/31/08	130	Genomic	unknown
ss105989664	BGI\|BGI_rs3094124	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	09/12/08	06/18/09	130	Genomic	unknown
ss109883858	1000GENOMES\|CEU.trio.12.15.2008_1482663_chr6_30819784	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	12/15/08	12/16/08	130	Genomic	unknown
ss116385355	ILLUMINA-UK\|NA18507_000046490_NCBI36.1_chr6_30819784	rev/	C/G	ccgaagtcagattaaagggctcgaggacgg	ggacacaggggtgggcgccagggatgcggc	01/17/09	01/17/09	130	Genomic	99 %

Fasta sequence (Legend)

 TCCGGTCCTG AGATCTTCAC CTTCGACCCT CTCCCGGAGC CCGCAGCGGC CCCTGCCGGG
 CGCCCCAGCG CCTCTCGCGG GCACCGAAAG CGCAGCCGCA GGGTTCTCTA CCCTCGAGTG
 GTGAGTATCG CCGAAGTGGG CATTCGCGGG GTGCGCTGCC CTGGAGTCAC TGGGGAACGA
 CCCGACTCCA GAGGCCTCGA CCTGACCTGT CTCCTGTTTT GTCTCCCCTT AGGTCCGGCG
 CCAGCTGCCA GTCGAGGAAC CGAACCCAGC CAAAAGGCTT CTCTTTCTGC TGCTCACCAT
 CGTCTTCTGC CAGATCCTGA TGGCTGAAGA GGGTGTGCCG GCGCCCCTGC CTCCAGAGGA
 CGCCCCTAAC GCCGCATCCC TGGCGCCCAC CCCTGTGTCC
 S
 CCGTCCTCGA GCCCTTTAAT CTGACTTCGG AGCCCTCGGA CTACGCTCTG GACCTCAGCA
 CTTTCCTCCA GCAACACCCG GCCGCCTTCT AACTGTGACT CCCCGCACTC CCCAAAAAGA
 ATCCGAAAAA CCACAAAGAA ACACCAGGCG TACCTGGTGC GCGAGAGCGT ATCCCCAACT
 GGGACTTCCG AGGCAACTTG AACTCAGAAC ACTACAGCGG AGACGCCACC CGGTGCTTGA
 GGCGGGACCG AGGCGCACAG AGACCGAGGC GCATAGAGAC CGAGGCACAG CCCAGCTGGG
 GCTAGGCCCG GTGGGAAGGA GAGCGTCGTT AATTTATTTC TTATTGCTCC TAATTAATAT
 TTATATGTAT TTATGTACGT CCTCCTAGGT GATGGAGATG

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
NC_000006.9 ABBA01038057 AC006165 AL662797 AL662848 AL662870 AP000512 BQ876386

dbSNP Blast Analysis

UniGene Cluster ID
76095

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/G	G/G	HWP	C	G
ss12684301	HapMap-CEU	European	116	IG	0.845	0.138	0.017		0.914	0.086

	HapMap-HCB	Asian	90	IG	0.956	0.044			0.978	0.022

	HapMap-JPT	Asian	88	IG	1.000				1.000

	HapMap-YRI	Sub-Saharan African	118	IG	1.000				1.000

ss48430546	AGI_ASP population	multiple	40	IG	0.900	0.100		1.000	0.950	0.050

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.060+/-0.163	549	432	0	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	UNKNOWN

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Revised: May 25, 2006 1:38 PM .